Scholars@Duke
Rebecca Hatcher Buckley

Rebecca Hatcher Buckley

James Buren Sidbury Distinguished Professor Emeritus of Pediatrics, in the School of Medicine
Pediatrics, Allergy and Immunology
buckl003@mc.duke.edu
Box 2898 Med Ctr, Durham, NC 27710
426 Jones Building, Durham, NC 27710

Selected Publications

Treatment with Elapegademase Restores Immunity in Infants with Adenosine Deaminase Deficient Severe Combined Immunodeficiency.

Journal Article J Clin Immunol · April 27, 2024 PURPOSE: Patients with adenosine deaminase 1 deficient severe combined immunodeficiency (ADA-SCID) are initially treated with enzyme replacement therapy (ERT) with polyethylene glycol-modified (PEGylated) ADA while awaiting definitive treatment with hemato ... Full text Link to item Cite

Relevance of lymphocyte proliferation to PHA in severe combined immunodeficiency (SCID) and T cell lymphopenia.

Journal Article Clin Immunol · April 2024 Severe combined immunodeficiency (SCID) is characterized by a severe deficiency in T cell numbers. We analyzed data collected (n = 307) for PHA-based T cell proliferation from the PIDTC SCID protocol 6901, using either a radioactive or flow cytometry metho ... Full text Link to item Cite

Posttransplantation late complications increase over time for patients with SCID: A Primary Immune Deficiency Treatment Consortium (PIDTC) landmark study.

Journal Article J Allergy Clin Immunol · January 2024 BACKGROUND: The Primary Immune Deficiency Treatment Consortium (PIDTC) enrolled children in the United States and Canada onto a retrospective multicenter natural history study of hematopoietic cell transplantation (HCT). OBJECTIVE: We investigated outcomes ... Full text Link to item Cite

Safety and Efficacy of Hizentra® Following Pediatric Hematopoietic Cell Transplant for Treatment of Primary Immunodeficiencies.

Journal Article J Clin Immunol · October 2023 Primary immunodeficiency disease (PIDD) comprises a group of disorders of immune function. Some of the most severe PIDD can be treated with hematopoietic cell transplant (HCT). Hizentra® is a 20% liquid IgG product approved for subcutaneous administration ... Full text Link to item Cite

Measuring the effect of newborn screening on survival after haematopoietic cell transplantation for severe combined immunodeficiency: a 36-year longitudinal study from the Primary Immune Deficiency Treatment Consortium.

Journal Article Lancet (London, England) · July 2023 BackgroundSevere combined immunodeficiency (SCID) is fatal unless durable adaptive immunity is established, most commonly through allogeneic haematopoietic cell transplantation (HCT). The Primary Immune Deficiency Treatment Consortium (PIDTC) expl ... Full text Cite

The diagnosis of severe combined immunodeficiency: Implementation of the PIDTC 2022 Definitions.

Journal Article J Allergy Clin Immunol · February 2023 BACKGROUND: Shearer et al in 2014 articulated well-defined criteria for the diagnosis and classification of severe combined immunodeficiency (SCID) as part of the Primary Immune Deficiency Treatment Consortium's (PIDTC's) prospective and retrospective stud ... Full text Link to item Cite

The diagnosis of severe combined immunodeficiency (SCID): The Primary Immune Deficiency Treatment Consortium (PIDTC) 2022 Definitions.

Journal Article J Allergy Clin Immunol · February 2023 Severe combined immunodeficiency (SCID) results from defects in the differentiation of hematopoietic stem cells into mature T lymphocytes, with additional lymphoid lineages affected in particular genotypes. In 2014, the Primary Immune Deficiency Treatment ... Full text Link to item Cite

Aberrant T-cell exhaustion in severe combined immunodeficiency survivors with poor T-cell reconstitution after transplantation.

Journal Article J Allergy Clin Immunol · January 2023 BACKGROUND: Severe combined immunodeficiency (SCID) comprises rare inherited disorders of immunity that require definitive treatment through hematopoietic cell transplantation (HCT) or gene therapy for survival. Despite successes of allogeneic HCT, many SC ... Full text Link to item Cite

Outcomes following treatment for ADA-deficient severe combined immunodeficiency: a report from the PIDTC.

Journal Article Blood · August 18, 2022 Adenosine deaminase (ADA) deficiency causes ∼13% of cases of severe combined immune deficiency (SCID). Treatments include enzyme replacement therapy (ERT), hematopoietic cell transplant (HCT), and gene therapy (GT). We evaluated 131 patients with ADA-SCID ... Full text Link to item Cite

HSCT using carrier donors for CD40L deficiency results in excellent immune function and higher CD40L expression in cTfh.

Journal Article Blood Adv · June 28, 2022 Data are limited regarding the immune status of CD40 ligand (CD40L)-deficient carriers and hematopoietic stem cell transplantation (HSCT) outcomes using them as donors for CD40L-deficient patients. Therefore, we studied the immune profiles of 7 carriers, 4 ... Full text Link to item Cite

Morbidity, Mortality, and Therapeutics in Combined Immunodeficiency: Data From the USIDNET Registry.

Journal Article J Allergy Clin Immunol Pract · May 2022 BACKGROUND: Optimal management of patients with combined immunodeficiency, especially pertaining to hematopoietic stem cell transplantation (HSCT), remains unclear. OBJECTIVE: To identify factors influencing HSCT and mortality in the population with combin ... Full text Link to item Cite

Long-Term Clinical Outcomes of Severe Combined Immunodeficiency Patients Given Nonablative Marrow Transplants.

Journal Article J Allergy Clin Immunol Pract · April 2022 BACKGROUND: Severe combined immunodeficiency (SCID) is a syndrome characterized by profound T-cell deficiency that is universally fatal in infancy unless immune reconstitution is achieved by hematopoietic stem cell transplantation, gene therapy, or enzyme ... Full text Link to item Cite

Autologous Ex Vivo Lentiviral Gene Therapy for Adenosine Deaminase Deficiency.

Journal Article The New England journal of medicine · May 2021 BackgroundSevere combined immunodeficiency due to adenosine deaminase (ADA) deficiency (ADA-SCID) is a rare and life-threatening primary immunodeficiency.MethodsWe treated 50 patients with ADA-SCID (30 in the United States and 20 in the U ... Full text Cite

Infections in Infants with SCID: Isolation, Infection Screening, and Prophylaxis in PIDTC Centers.

Journal Article J Clin Immunol · January 2021 PURPOSE: The Primary Immune Deficiency Treatment Consortium (PIDTC) enrolled children with severe combined immunodeficiency (SCID) in a prospective natural history study of hematopoietic stem cell transplant (HSCT) outcomes over the last decade. Despite ne ... Full text Link to item Cite

Adenosine Deaminase (ADA)-Deficient Severe Combined Immune Deficiency (SCID) in the US Immunodeficiency Network (USIDNet) Registry.

Journal Article J Clin Immunol · November 2020 Clinical data from ADA-SCID patients registered in the U.S. Immunodeficiency Network (USIDNet) Repository were analyzed. Sixty-four ADA-SCID patients born between 1981 and 2017 had clinical data entered by their local (or home) enrolling institution. Media ... Full text Link to item Cite

Hematopoietic Cell Transplantation in Patients With Primary Immune Regulatory Disorders (PIRD): A Primary Immune Deficiency Treatment Consortium (PIDTC) Survey.

Journal Article Front Immunol · 2020 Primary Immune Regulatory Disorders (PIRD) are an expanding group of diseases caused by gene defects in several different immune pathways, such as regulatory T cell function. Patients with PIRD develop clinical manifestations associated with diminished and ... Full text Link to item Cite

Michael M. Frank: February 28, 1937–August 1, 2019

Journal Article Journal of Allergy and Clinical Immunology · December 2019 Full text Cite

30-Year Review of Pediatric- and Adult-Onset CVID: Clinical Correlates and Prognostic Indicators.

Journal Article J Clin Immunol · October 2019 PURPOSE: To evaluate mortality risk factors in pediatric-onset common variable immunodeficiency disorders (CVID), we evaluated the largest single-institution cohort of pediatric-onset CVID patients. Previous publications on CVID have provided valuable desc ... Full text Link to item Cite

The genetic landscape of severe combined immunodeficiency in the United States and Canada in the current era (2010-2018).

Journal Article J Allergy Clin Immunol · January 2019 In a 250 patient cohort from the US and Canada in the current era (2010–2018), we show that over 90% of patients with severe combined immunodeficiency (SCID) can be genetically-characterized. ... Full text Link to item Cite

SCID: A Pediatric Emergency.

Journal Article N C Med J · 2019 Full text Link to item Cite

SCID genotype and 6-month posttransplant CD4 count predict survival and immune recovery.

Journal Article Blood · October 25, 2018 The Primary Immune Deficiency Treatment Consortium (PIDTC) performed a retrospective analysis of 662 patients with severe combined immunodeficiency (SCID) who received a hematopoietic cell transplantation (HCT) as first-line treatment between 1982 and 2012 ... Full text Link to item Cite

B-cell differentiation and IL-21 response in IL2RG/JAK3 SCID patients after hematopoietic stem cell transplantation.

Journal Article Blood · June 28, 2018 Allogeneic hematopoietic stem cell transplant (HSCT) typically results in donor T-cell engraftment and function in patients with severe combined immunodeficiency (SCID), but humoral immunity, particularly when using donors other than matched siblings, is v ... Full text Link to item Cite

Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors.

Journal Article Ann Rheum Dis · April 2018 OBJECTIVES: To characterise the clinical features, immune manifestations and molecular mechanisms in a recently described autoinflammatory disease caused by mutations in TRNT1, a tRNA processing enzyme, and to explore the use of cytokine inhibitors in supp ... Full text Link to item Cite

Cancer in primary immunodeficiency diseases: Cancer incidence in the United States Immune Deficiency Network Registry.

Journal Article J Allergy Clin Immunol · March 2018 BACKGROUND: We evaluated the overall and site-specific incidence of cancer in subjects with primary immunodeficiency diseases (PIDD) enrolled in the United States Immune Deficiency Network (USIDNET) registry compared with age-adjusted cancer incidence in t ... Full text Link to item Cite

Characterization of pediatric onset common variable immunodeficiency (CVID) in a large cohort

Conference Journal of Allergy and Clinical Immunology · February 2018 Full text Cite

Common variable immunodeficiency non-infectious disease endotypes redefined using unbiased network clustering in large electronic datasets

Journal Article Frontiers in Immunology · January 9, 2018 Common variable immunodeficiency (CVID) is increasingly recognized for its association with autoimmune and inflammatory complications. Despite recent advances in immunophenotypic and genetic discovery, clinical care of CVID remains limited by our inability ... Full text Cite

Outcome of hematopoietic cell transplantation for DNA double-strand break repair disorders.

Journal Article J Allergy Clin Immunol · January 2018 BACKGROUND: Rare DNA breakage repair disorders predispose to infection and lymphoreticular malignancies. Hematopoietic cell transplantation (HCT) is curative, but coadministered chemotherapy or radiotherapy is damaging because of systemic radiosensitivity. ... Full text Open Access Link to item Cite

Autosomal Dominant Hyper-IgE Syndrome in the USIDNET Registry.

Journal Article J Allergy Clin Immunol Pract · 2018 BACKGROUND: Autosomal dominant hyper-IgE syndrome (AD-HIES) is a rare condition. OBJECTIVE: Data from the USIDNET Registry provide a resource to examine the characteristics of patients with rare immune deficiency diseases. METHODS: A query was submitted to ... Full text Link to item Cite

Immune reconstitution and survival of 100 SCID patients post-hematopoietic cell transplant: a PIDTC natural history study.

Journal Article Blood · December 21, 2017 The Primary Immune Deficiency Treatment Consortium (PIDTC) is enrolling children with severe combined immunodeficiency (SCID) to a prospective natural history study. We analyzed patients treated with allogeneic hematopoietic cell transplantation (HCT) from ... Full text Open Access Link to item Cite

Recommendations for Screening and Management of Late Effects in Patients with Severe Combined Immunodeficiency after Allogenic Hematopoietic Cell Transplantation: A Consensus Statement from the Second Pediatric Blood and Marrow Transplant Consortium International Conference on Late Effects after Pediatric HCT.

Journal Article Biol Blood Marrow Transplant · August 2017 Severe combined immunodeficiency (SCID) is effectively treated with hematopoietic cell transplantation (HCT), with overall survival approaching 90% in contemporary reports. However, survivors are at risk for developing late complications because of the var ... Full text Link to item Cite

Current Knowledge and Priorities for Future Research in Late Effects after Hematopoietic Stem Cell Transplantation (HCT) for Severe Combined Immunodeficiency Patients: A Consensus Statement from the Second Pediatric Blood and Marrow Transplant Consortium International Conference on Late Effects after Pediatric HCT.

Journal Article Biol Blood Marrow Transplant · March 2017 Severe combined immunodeficiency (SCID) is 1 of the most common indications for pediatric hematopoietic cell transplantation (HCT) in patients with primary immunodeficiency. Historically, SCID was diagnosed in infants who presented with opportunistic infec ... Full text Link to item Cite

Clinical and imaging considerations in primary immunodeficiency disorders: an update.

Journal Article Pediatr Radiol · November 2016 Primary immunodeficiencies are a group of genetically determined disorders with diverse presentations. The purpose of this review is to provide a practical and brief description of a select number of these diseases and to discuss the important role the rad ... Full text Link to item Cite

Bone marrow transplantation for CVID-like humoral immune deficiency associated with red cell aplasia.

Journal Article Pediatr Blood Cancer · October 2016 Patients with common variable immunodeficiency (CVID) have a higher incidence of autoimmune disease, which may mark the disease onset; however, anemia secondary to pure red cell aplasia is an uncommon presenting feature. Here, we describe a case of CVID-li ... Full text Link to item Cite

Hyper IgM Syndrome: a Report from the USIDNET Registry.

Conference J Clin Immunol · July 2016 PURPOSE: The United States Immunodeficiency Network (USIDNET) patient registry was used to characterize the presentation, genetics, phenotypes, and treatment of patients with Hyper IgM Syndrome (HIGM). METHODS: The USIDNET Registry was queried for HIGM pat ... Full text Link to item Cite

Dominant Splice Site Mutations in PIK3R1 Cause Hyper IgM Syndrome, Lymphadenopathy and Short Stature.

Journal Article J Clin Immunol · July 2016 The purpose of this research was to use next generation sequencing to identify mutations in patients with primary immunodeficiency diseases whose pathogenic gene mutations had not been identified. Remarkably, four unrelated patients were found by next gene ... Full text Open Access Link to item Cite

Hematopoietic Stem Cell Transplantation for CD40 Ligand Deficiency: Single Institution Experience.

Journal Article Pediatr Blood Cancer · December 2015 BACKGROUND: X-linked hyper-IgM syndrome (X-HIGM) due to mutations in the gene encoding CD40 ligand results in failure of Ig class switching and an increased propensity for recurrent sinopulmonary and other infections, and thus decreased life expectancy. Al ... Full text Link to item Cite

Combined immunodeficiency in the United States and Kuwait: Comparison of patients' characteristics and molecular diagnosis.

Journal Article Clin Immunol · December 2015 AIM: To compare different variables among (S)CID patients diagnosed in the USA and Kuwait. METHODS: Review of patients registered in The US Immune Deficiency Network registry or Kuwait National PID Registry between 2004 and 2014. RESULTS: Totals of 98 and ... Full text Link to item Cite

Clinical application of whole-genome sequencing in patients with primary immunodeficiency.

Journal Article J Allergy Clin Immunol · August 2015 This report illustrates the value of whole genome sequencing (WGS) in elucidating the genetic cause of disease in patients with primary immunodeficiency (PID). As sequencing costs decline, we predict that utilization of next generation sequencing (NGS) in ... Full text Link to item Cite

Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections.

Journal Article N Engl J Med · June 18, 2015 Background Combined immunodeficiencies are marked by inborn errors of T-cell immunity in which the T cells that are present are quantitatively or functionally deficient. Impaired humoral immunity is also common. Patients have severe infections, autoimmunit ... Full text Link to item Cite

Positive Family History, Infection, Low Absolute Lymphocyte Count (ALC), and Absent Thymic Shadow: Diagnostic Clues for All Molecular Forms of Severe Combined Immunodeficiency (SCID).

Journal Article J Allergy Clin Immunol Pract · 2015 BACKGROUND: Severe combined immunodeficiency (SCID) is a syndrome uniformly fatal during infancy unless recognized and treated successfully by bone marrow transplantation or gene therapy. Because infants with SCID have no abnormal physical appearance, diag ... Full text Link to item Cite

Comparison of outcomes of hematopoietic stem cell transplantation without chemotherapy conditioning by using matched sibling and unrelated donors for treatment of severe combined immunodeficiency.

Journal Article J Allergy Clin Immunol · October 2014 BACKGROUND: Patients with severe combined immunodeficiency disease who have matched sibling donors (MSDs) can proceed to hematopoietic cell transplantation (HCT) without conditioning chemotherapy. OBJECTIVE: We sought to determine whether the results of HC ... Full text Link to item Cite

A nonsense mutation in IKBKB causes combined immunodeficiency.

Journal Article Blood · September 25, 2014 Identification of the molecular etiologies of primary immunodeficiencies has led to important insights into the development and function of the immune system. We report here the cause of combined immunodeficiency in 4 patients from 2 different consanguineo ... Full text Link to item Cite

Transplantation outcomes for severe combined immunodeficiency, 2000-2009.

Journal Article N Engl J Med · July 31, 2014 BACKGROUND: The Primary Immune Deficiency Treatment Consortium was formed to analyze the results of hematopoietic-cell transplantation in children with severe combined immunodeficiency (SCID) and other primary immunodeficiencies. Factors associated with a ... Full text Link to item Cite

Actionable diagnosis of neuroleptospirosis by next-generation sequencing.

Journal Article N Engl J Med · June 19, 2014 A 14-year-old boy with severe combined immunodeficiency presented three times to a medical facility over a period of 4 months with fever and headache that progressed to hydrocephalus and status epilepticus necessitating a medically induced coma. Diagnostic ... Full text Link to item Cite

Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: the Primary Immune Deficiency Treatment Consortium experience.

Journal Article J Allergy Clin Immunol · April 2014 BACKGROUND: The approach to the diagnosis of severe combined immunodeficiency disease (SCID) and related disorders varies among institutions and countries. OBJECTIVES: The Primary Immune Deficiency Treatment Consortium attempted to develop a uniform set of ... Full text Link to item Cite

Recommendations for live viral and bacterial vaccines in immunodeficient patients and their close contacts.

Journal Article J Allergy Clin Immunol · April 2014 The present uncertainty of which live viral or bacterial vaccines can be given to immunodeficient patients and the growing neglect of societal adherence to routine immunizations has prompted the Medical Advisory Committee of the Immune Deficiency Foundatio ... Full text Link to item Cite

Dna Ligase IV Deficiency With Novel Compound Heterozygous Mutations

Conference JOURNAL OF CLINICAL IMMUNOLOGY · April 1, 2014 Link to item Cite

Whole-Exome Sequencing Reveals IKBKB As a Cause of Combined Immunodeficiency

Conference Journal of Allergy and Clinical Immunology · February 2014 Full text Cite

Primary Immune Deficiency Treatment Consortium (PIDTC) report.

Journal Article J Allergy Clin Immunol · February 2014 The Primary Immune Deficiency Treatment Consortium (PIDTC) is a network of 33 centers in North America that study the treatment of rare and severe primary immunodeficiency diseases. Current protocols address the natural history of patients treated for seve ... Full text Link to item Cite

Diagnostic Immunization with Bacteriophage ΦX 174 in Patients with Common Variable Immunodeficiency/Hypogammaglobulinemia.

Journal Article Front Immunol · 2014 PURPOSE: Use of the T cell-dependent neoantigen bacteriophage ΦX 174 has been described since the 1960s as a method to assess specific antibody response in patients with primary immunodeficiencies. We reviewed a cohort of patients at Duke University Medica ... Full text Link to item Cite

The natural history of children with severe combined immunodeficiency: baseline features of the first fifty patients of the primary immune deficiency treatment consortium prospective study 6901.

Journal Article J Clin Immunol · October 2013 The Primary Immune Deficiency Treatment Consortium (PIDTC) consists of 33 centers in North America. We hypothesized that the analysis of uniform data on patients with severe combined immunodeficiency (SCID) enrolled in a prospective protocol will identify ... Full text Link to item Cite

Long-term outcome of non-ablative booster BMT in patients with SCID.

Journal Article Bone Marrow Transplant · August 2013 SCID is a fatal syndrome caused by mutations in at least 13 different genes. It is characterized by the absence of T cells. Immune reconstitution can be achieved through nonablative related donor BMT. However, the first transplant may not provide sufficien ... Full text Open Access Link to item Cite

B-cell reconstitution for SCID: should a conditioning regimen be used in SCID treatment?

Journal Article J Allergy Clin Immunol · April 2013 Bone marrow transplantation has resulted in life-saving sustained T-cell reconstitution in many infants with severe combined immunodeficiency (SCID), but correction of B-cell function has been more problematic. At the annual meeting of the Primary Immunode ... Full text Link to item Cite

Post-transplantation B cell function in different molecular types of SCID.

Journal Article J Clin Immunol · January 2013 PURPOSE: Severe combined immunodeficiency (SCID) is a syndrome of diverse genetic cause characterized by profound deficiencies of T, B and sometimes NK cell function. Non-ablative HLA-identical or rigorously T cell-depleted haploidentical parental bone mar ... Full text Open Access Link to item Cite

Long-term outcome of non-ablative booster BMT in patients with SCID

Journal Article Bone Marrow Transplantation · 2013 SCID is a fatal syndrome caused by mutations in at least 13 different genes. It is characterized by the absence of T cells. Immune reconstitution can be achieved through nonablative related donor BMT. However, the first transplant may not provide sufficien ... Full text Cite

Diagnosis of 22q11.2 deletion syndrome and artemis deficiency in two children with T-B-NK+ immunodeficiency.

Journal Article J Clin Immunol · October 2012 Two infants are described who presented with 22q11.2 deletion and a T(-)B(-)NK(+) immune phenotype. For both infants, the initial diagnosis was athymia secondary to complete DiGeorge anomaly. The first infant underwent thymus transplantation but 6 months a ... Full text Link to item Cite

CD45-deficient severe combined immunodeficiency caused by uniparental disomy.

Journal Article Proc Natl Acad Sci U S A · June 26, 2012 Analysis of the molecular etiologies of SCID has led to important insights into the control of immune cell development. Most cases of SCID result from either X-linked or autosomal recessive inheritance of mutations in a known causative gene. However, in so ... Full text Link to item Cite

Expansion of somatically reverted memory CD8+ T cells in patients with X-linked lymphoproliferative disease caused by selective pressure from Epstein-Barr virus.

Journal Article J Exp Med · May 7, 2012 Patients with the primary immunodeficiency X-linked lymphoproliferative disease (XLP), which is caused by mutations in SH2D1A, are highly susceptible to Epstein-Barr virus (EBV) infection. Nonetheless, some XLP patients demonstrate less severe clinical man ... Full text Link to item Cite

The long quest for neonatal screening for severe combined immunodeficiency.

Journal Article J Allergy Clin Immunol · March 2012 Early recognition of severe combined immunodeficiency (SCID) is a pediatric emergency because a diagnosis before live vaccines or nonirradiated blood products are given and before development of infections permits lifesaving unfractionated HLA-identical or ... Full text Link to item Cite

CD45 Deficiency Caused by Uniparental Disomy, a Novel Cause of Severe Combined Immunodeficiency

Conference Journal of Allergy and Clinical Immunology · February 2012 Full text Cite

Post-Transplantation B Cell Function in Different Molecular Types of SCID

Journal Article Journal of Clinical Immunology · 2012 Cite

Myeloid dysplasia and bone marrow hypocellularity in adenosine deaminase-deficient severe combined immune deficiency.

Journal Article Blood · September 8, 2011 Genetic deficiency of adenosine deaminase (ADA) can cause profound lymphopenia and result in the clinical presentation of severe combined immune deficiency (SCID). However, because of the ubiquitous expression of ADA, ADA-deficient patients often present a ... Full text Link to item Cite

Transplantation of hematopoietic stem cells in human severe combined immunodeficiency: longterm outcomes.

Journal Article Immunol Res · April 2011 Featured Publication Severe combined immunodeficiency (SCID) is a syndrome of diverse genetic cause characterized by profound deficiencies of T- and B-cell function and, in some types, also of NK cells and function. Mutations in thirteen different genes have been found to caus ... Full text Link to item Cite

The long and the short of telomeres in bone marrow recipient SCID patients.

Journal Article Immunol Res · April 2011 Featured Publication Telomeres are noncoding DNA regions at the end of the chromosomes that are crucial for genome stability. Since telomere length decreases with cell division, they can be used as a signature of cell proliferation history. T-cell reconstitution in severe comb ... Full text Link to item Cite

Why newborn screening for severe combined immunodeficiency is essential: a case report.

Journal Article Pediatrics · August 2010 Physicians caring for infants in the first months of life need to know the normal ranges for absolute lymphocyte counts (ALCs) during that age. Any ALC <2500/microL is potentially pathogenic in early infancy and should be evaluated. We report the case of a ... Full text Link to item Cite

B-cell function in severe combined immunodeficiency after stem cell or gene therapy: a review.

Journal Article J Allergy Clin Immunol · April 2010 Featured Publication Although bone marrow transplantation has resulted in life-saving T-cell reconstitution in infants with severe combined immunodeficiency (SCID), correction of B-cell function has been more problematic. This review examines B-cell reconstitution results pres ... Full text Link to item Cite

Digital microfluidics: a future technology in the newborn screening laboratory?

Journal Article Semin Perinatol · April 2010 Expansion of newborn screening for inherited metabolic disorders using tandem mass spectrometry has generated interest in screening for other treatable conditions, including lysosomal storage diseases. Limitations to expansion include labor and equipment c ... Full text Link to item Cite

Occurrence and Significance of Lymphopenia in the NICU, PICU and Well Baby Nursery

Conference Journal of Allergy and Clinical Immunology · February 2010 Full text Cite

Transplantation immunology: solid organ and bone marrow.

Journal Article J Allergy Clin Immunol · February 2010 Development of the field of organ and tissue transplantation has accelerated remarkably since the human MHC was discovered in 1967. Matching of donor and recipient for MHC antigens has been shown to have a significant positive effect on graft acceptance. T ... Full text Link to item Cite

Improving cellular therapy for primary immune deficiency diseases: recognition, diagnosis, and management.

Journal Article J Allergy Clin Immunol · December 2009 More than 20 North American academic centers account for the majority of hematopoietic stem cell transplantation (HCT) procedures for primary immunodeficiency diseases (PIDs), with smaller numbers performed at additional sites. Given the importance of a ti ... Full text Link to item Cite

Long-term clinical outcome of patients with severe combined immunodeficiency who received related donor bone marrow transplants without pretransplant chemotherapy or post-transplant GVHD prophylaxis.

Journal Article J Pediatr · December 2009 Featured Publication OBJECTIVE: To determine long-term health benefits of nonablative bone marrow transplantation for severe combined immunodeficiency (SCID), we investigated our cohort of 161 related donor bone marrow-transplanted patients with SCID. Only 16 (10%) had HLA-ide ... Full text Link to item Cite

Thymic output, T-cell diversity, and T-cell function in long-term human SCID chimeras.

Journal Article Blood · August 13, 2009 Featured Publication Severe combined immunodeficiency (SCID) is a syndrome of diverse genetic cause characterized by profound deficiencies of T, B, and sometimes NK-cell function. Nonablative human leukocyte antigen-identical or rigorously T cell-depleted haploidentical parent ... Full text Link to item Cite

On Assessing Immunocompetence

Journal Article Journal of Allergy and Clinical Immunology · February 1, 2009 Full text Cite

On Assessing Immunocompetence

Conference JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY · February 1, 2009 Link to item Cite

Gene therapy for immunodeficiency due to adenosine deaminase deficiency.

Journal Article N Engl J Med · January 29, 2009 Featured Publication BACKGROUND: We investigated the long-term outcome of gene therapy for severe combined immunodeficiency (SCID) due to the lack of adenosine deaminase (ADA), a fatal disorder of purine metabolism and immunodeficiency. METHODS: We infused autologous CD34+ bon ... Full text Link to item Cite

Specific Antibody Synthesis in Patients with Immunoglobulin Deficits

Conference JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY · 2009 Cite

Allogeneic hematopoietic cell transplantation for primary immune deficiency diseases: current status and critical needs.

Journal Article J Allergy Clin Immunol · December 2008 Featured Publication Allogeneic hematopoietic cell transplantation (HCT) has been used for 40 years to ameliorate or cure primary immune deficiency (PID) diseases, including severe combined immunodeficiency (SCID) and non-SCID PID. There is a critical need for evaluation of th ... Full text Link to item Cite

Why newborn screening for severe combined immunodeficiency is essential: a case report

Journal Article CLINICAL AND EXPERIMENTAL IMMUNOLOGY · November 1, 2008 Link to item Cite

Population prevalence of diagnosed primary immunodeficiency diseases in the United States

Journal Article Pharmaceuticals Policy and Law · January 1, 2008 Rationale: Although health surveys are routinely used to estimate the population incidence and prevalence of many chronic and acute conditions in the US population, they have infrequently been used for "rare" conditions such as primary immunodeficiency dis ... Cite

Population prevalence of diagnosed primary immunodeficiency diseases in the United States.

Journal Article J Clin Immunol · September 2007 Featured Publication RATIONALE: Although health surveys are routinely used to estimate the population incidence and prevalence of many chronic and acute conditions in the U.S. population, they have infrequently been used for "rare" conditions such as primary immunodeficiency d ... Full text Link to item Cite

Unusual clinical and immunologic manifestations of transplacentally acquired maternal T cells in severe combined immunodeficiency.

Journal Article J Allergy Clin Immunol · August 2007 Featured Publication The persistence of transplacentally transferred maternal T cells is common in infants with severe combined immunodeficiency (SCID), occurring in more than half of patients with SCID undergoing transplantation at our institution. These T cells respond poorl ... Full text Link to item Cite

Management options for adenosine deaminase deficiency; proceedings of the EBMT satellite workshop (Hamburg, March 2006).

Journal Article Clin Immunol · May 2007 Adenosine deaminase (ADA) deficiency is a disorder of purine salvage that has its most devastating consequences in the immune system leading to severe combined immunodeficiency (SCID). Management options for ADA SCID include hematopoietic stem cell transpl ... Full text Link to item Cite

T-B+NK+ severe combined immunodeficiency caused by complete deficiency of the CD3zeta subunit of the T-cell antigen receptor complex.

Journal Article Blood · April 15, 2007 Featured Publication CD3zeta is a subunit of the T-cell antigen receptor (TCR) complex required for its assembly and surface expression that also plays an important role in TCR-mediated signal transduction. We report here a patient with T(-)B(+)NK(+) severe combined immunodefi ... Full text Link to item Cite

Epstein-Barr-associated leiomyomatosis and T-cell chimerism after haploidentical bone marrow transplantation for severe combined immunodeficiency disease.

Journal Article J Pediatr Hematol Oncol · March 2007 Featured Publication BACKGROUND: The clinical course of Epstein-Barr virus (EBV)-associated smooth muscle tumors is variable and there are no reports in patients with mixed T-cell chimerism after bone marrow transplantation (BMT). OBSERVATIONS: A child with X-linked severe com ... Full text Link to item Cite

The effect of natural killer cell killer Ig-like receptor alloreactivity on the outcome of bone marrow stem cell transplantation for severe combined immunodeficiency (SCID).

Journal Article J Clin Immunol · January 2007 Featured Publication Natural killer (NK) cell alloreactions against recipient cells in the setting of bone marrow transplantation have been associated with decreased rates of graft-versus-host disease (GVHD) and improved survival in transplant recipients with myeloid leukemia. ... Full text Link to item Cite

34-OR

Conference Human Immunology · October 2006 Full text Cite

Primary immunodeficiency or not? Making the correct diagnosis.

Journal Article J Allergy Clin Immunol · April 2006 Featured Publication Making a correct diagnosis of a primary immunodeficiency disease is crucial for the selection of proper therapy. Although many cases go undiagnosed, there are also many instances of incorrect diagnosis that result in years of inappropriate treatment and fa ... Full text Link to item Cite

Use of intravenous immunoglobulin in human disease: a review of evidence by members of the Primary Immunodeficiency Committee of the American Academy of Allergy, Asthma and Immunology.

Journal Article J Allergy Clin Immunol · April 2006 Human immunoglobulin prepared for intravenous administration (IGIV) has a number of important uses in the treatment of disease. Some of these are in diseases for which acceptable treatment alternatives do not exist. In this review we have evaluated the evi ... Full text Link to item Cite

Clinical and Immunologic Manifestations of Transplacentally Acquired Maternal T-Cells in SCID

Conference Journal of Allergy and Clinical Immunology · February 2006 Full text Cite

Population Prevalence of Diagnosed Primary Immune Deficiency Diseases in the United States

Conference Journal of Allergy and Clinical Immunology · February 2006 Full text Cite

Variable phenotypic expression of mutations in genes of the immune system.

Journal Article J Clin Invest · November 2005 Featured Publication Discovery of mutated genes that cause various types of primary immunodeficiencies has significantly advanced our understanding of the pathogenesis of these diseases and of the functions of normal gene products. However, it is becoming abundantly clear that ... Full text Link to item Cite

The multiple causes of human SCID.

Journal Article J Clin Invest · November 2004 Featured Publication SCID, a syndrome characterized by the absence of T cells and adaptive immunity, can result from mutations in multiple genes that encode components of the immune system. Three such components are cytokine receptor chains or signaling molecules, five are nee ... Full text Link to item Cite

A novel mutation in IFN-gamma receptor 2 with dominant negative activity: biological consequences of homozygous and heterozygous states.

Journal Article J Immunol · September 15, 2004 Featured Publication We identified two siblings homozygous for a single base pair deletion in the IFN-gammaR2 transmembrane domain (791delG) who presented with multifocal Mycobacterium abscessus osteomyelitis (patient 1) and disseminated CMV and Mycobacterium avium complex inf ... Full text Link to item Cite

Jak3 and the pathogenesis of severe combined immunodeficiency.

Journal Article Mol Immunol · July 2004 Featured Publication The discovery that Jak3 mutations are a significant cause of severe combined immunodeficiency (SCID), a rare inherited defect characterized by lymphopenia, has provided valuable insights into the functions of Jak3 in lymphoid development and function. The ... Full text Link to item Cite

A historical review of bone marrow transplantation for immunodeficiencies.

Journal Article J Allergy Clin Immunol · April 2004 Featured Publication Full text Link to item Cite

Complete DiGeorge syndrome: development of rash, lymphadenopathy, and oligoclonal T cells in 5 cases.

Journal Article J Allergy Clin Immunol · April 2004 Featured Publication BACKGROUND: Five patients with DiGeorge syndrome presented with infections, skin rashes, and lymphadenopathy after the newborn period. T-cell counts and function varied greatly in each patient. Initial laboratory testing did not suggest athymia in these pa ... Full text Link to item Cite

Janus kinase 3 (JAK3) deficiency: clinical, immunologic, and molecular analyses of 10 patients and outcomes of stem cell transplantation.

Journal Article Blood · March 15, 2004 Featured Publication We found 10 individuals from 7 unrelated families among 170 severe combined immunodeficiency (SCID) patients who exhibited 9 different Janus kinase 3 (JAK3) mutations. These included 3 missense and 2 nonsense mutations, 1 insertion, and 3 deletions. With t ... Full text Link to item Cite

Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution.

Journal Article Annu Rev Immunol · 2004 Featured Publication Mutations in nine different genes have been found to cause the human severe combined immunodeficiency syndrome. The products of three of the genes--IL-2RG, Jak3, and IL-7R alpha--are components of cytokine receptors, and the products of three more-RAG1, RA ... Full text Link to item Cite

Abnormal development of thymic dendritic and epithelial cells in human X-linked severe combined immunodeficiency.

Journal Article Clin Immunol · January 2004 Featured Publication The X-linked form of severe combined immunodeficiency (X-SCID) is caused by mutations in the common cytokine receptor gamma chain and results in lack of T and NK cells and defective B cells. Without immune reconstitution, X-SCID patients typically die from ... Full text Link to item Cite

Pulmonary complications of primary immunodeficiencies.

Journal Article Paediatr Respir Rev · 2004 Featured Publication In the fifty years since Ogden Bruton discovered agammaglobulinemia, more than 100 additional immunodeficiency syndromes have been described. These disorders may involve one or more components of the immune system, including T, B, and NK lymphocytes; phago ... Full text Link to item Cite

Mutations in genes required for T-cell development: IL7R, CD45, IL2RG, JAK3, RAG1, RAG2, ARTEMIS, and ADA and severe combined immunodeficiency: HuGE review.

Journal Article Genet Med · 2004 Severe combined immunodeficiency (SCID) is an inherited immune disorder characterized by T-cell lymphopenia (TCLP), a profound lack of cellular (T-cell) and humoral (B-cell) immunity and, in some cases, decreased NK-cell number and function. Affected child ... Full text Link to item Cite

The use of intravenous immunoglobulin for allogeneic stem cell transplantation: the US experience

Conference INTRAVENOUS IMMUNOGLOBULINS IN THE THIRD MILLENNIUM · January 1, 2004 Link to item Cite

Comparison of the efficacy of IGIV-C, 10% (caprylate/chromatography) and IGIV-SD, 10% as replacement therapy in primary immune deficiency. A randomized double-blind trial.

Journal Article Int Immunopharmacol · September 2003 Featured Publication A novel method of large-scale chromatography has been developed to improve recovery and purity of immunoglobulin G (IgG) from pooled plasma. The current study compares safety, toxicity and efficacy of two intravenous immunoglobulin products: a novel formul ... Full text Link to item Cite

Pharmacokinetics and tolerability of a new intravenous immunoglobulin preparation, IGIV-C, 10% (Gamunex, 10%).

Journal Article Vox Sang · April 2003 Featured Publication BACKGROUND AND OBJECTIVES: A new intravenous immunoglobulin (IGIV) process has been developed that integrates efficient inactivation of enveloped virus, using caprylate, with immunoglobulin G (IgG) purification and caprylate removal by column chromatograph ... Full text Link to item Cite

T cell repertoire development in humans with SCID after nonablative allogeneic marrow transplantation.

Journal Article J Immunol · March 1, 2003 Featured Publication Transplantation of HLA-identical or haploidentical T cell-depleted allogeneic bone marrow (BM) into SCID infants results in thymus-dependent T cell development in the recipients. Immunoscope analysis of the TCR V beta repertoire was performed on 15 SCID pa ... Full text Link to item Cite

Treatment options for genetically determined immunodeficiency.

Journal Article Lancet · February 15, 2003 Featured Publication Full text Link to item Cite

27. Transplantation immunology: organ and bone marrow.

Journal Article J Allergy Clin Immunol · February 2003 Featured Publication The discovery of the human MHC in 1967 launched the field of organ and tissue transplantation. More than 800,000 such transplants have been performed during this time. Although matching of donor and recipient for MHC antigens was shown to be of great impor ... Full text Link to item Cite

Gene therapy for SCID--a complication after remarkable progress.

Journal Article Lancet · October 19, 2002 Featured Publication Full text Link to item Cite

Immunoglobulin G subclass deficiency: fact or fancy?

Journal Article Curr Allergy Asthma Rep · September 2002 Featured Publication Over the past four decades, many patients have been reported to have deficiencies of one or more subclasses of immunoglobulin G (IgG), despite normal total IgG serum concentrations. However, except for those with extremely low or absent IgG2 concentrations ... Full text Link to item Cite

Primary immunodeficiency diseases: dissectors of the immune system.

Journal Article Immunol Rev · July 2002 Featured Publication The past 50 years have seen enormous progress in this field. An unknown concept until 1952, there are now more than 100 different primary immunodeficiency syndromes in the world's literature. Each novel syndrome has shed new insight into the workings of th ... Full text Link to item Cite

Primary cellular immunodeficiencies.

Journal Article J Allergy Clin Immunol · May 2002 Featured Publication Genetic defects in T-cell function lead to susceptibility to infections or to other clinical problems that are more grave than those seen in disorders resulting in antibody deficiency alone. Those affected usually present during infancy with either common ... Full text Link to item Cite

Hematopoietic stem cell transplantation for severe combined immunodeficiency in the neonatal period leads to superior thymic output and improved survival.

Journal Article Blood · February 1, 2002 Featured Publication All genetic types of severe combined immunodeficiency (SCID) can be cured by stem cell transplantation from related donors. The survival rate approaches 80%, and most deaths result from opportunistic infections acquired before transplantation. It was hypot ... Full text Link to item Cite

Distinctive clinical and laboratory features of autosomal-recessive hyper IgM syndrome

Journal Article Journal of Allergy and Clinical Immunology · January 2002 Full text Cite

Prevalence of X-linked lymphoproliferative (XLP) disease mutation among male patients with CVID

Journal Article Journal of Allergy and Clinical Immunology · January 2002 Full text Cite

Unexpected effects of FERM domain mutations on catalytic activity of Jak3: structural implication for Janus kinases.

Journal Article Mol Cell · November 2001 Featured Publication Janus kinases comprise carboxyterminal kinase, pseudokinase, SH2-like, and N-terminal FERM domains. We identified three patient-derived mutations in the FERM domain of Jak3 and investigated the functional consequences of these mutations. These mutations in ... Full text Link to item Cite

Alterations of the X-linked lymphoproliferative disease gene SH2D1A in common variable immunodeficiency syndrome.

Journal Article Blood · September 1, 2001 X-linked lymphoproliferative (XLP) disease is a primary immunodeficiency caused by a defect in the SH2D1A gene. At least 3 major manifestations characterize its clinical presentation: fatal infectious mononucleosis (FIM), lymphomas, and immunoglobulin defi ... Full text Link to item Cite

The hyper-IgE syndrome.

Journal Article Clin Rev Allergy Immunol · February 2001 Featured Publication Full text Link to item Cite

Adenosine deaminase (ADA) deficiency, multiple phenotypes

Journal Article JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY · February 1, 2001 Link to item Cite

Pharmacokinetics of a novel, intravenous immunoglobulin preparation

Journal Article JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY · February 1, 2001 Link to item Cite

CD27+memory B cells in human severe combined immunodeficiency (SCID)

Journal Article JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY · February 1, 2001 Link to item Cite

Intestinal lymphangiectasia masquerading as severe combined immunodeficiency (SCID)

Journal Article JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY · February 1, 2001 Link to item Cite

Genotypic diagnosis of T-B+ SCID by functional assay.

Conference AMERICAN JOURNAL OF HUMAN GENETICS · 2001 Cite

Cutaneous complications of BCG vaccination in infants with immune disorders: two cases and a review of the literature.

Journal Article Pediatr Dermatol · 2001 Featured Publication Two infants, one with a T-cell-signaling defect resulting in a primary immunodeficiency syndrome and the other with severe combined immunodeficiency (SCID), are described. Both infants developed cutaneous infections secondary to their bacillus Calmette-Gué ... Full text Link to item Cite

Mutations in activation-induced cytidine deaminase in patients with hyper IgM syndrome.

Journal Article Clin Immunol · December 2000 Featured Publication Recent studies have shown that mutations in a newly described RNA editing enzyme, activation-induced cytidine deaminase (AID), can cause an autosomal recessive form of hyper IgM syndrome. To determine the relative frequency of mutations in AID, we evaluate ... Full text Link to item Cite

Primary immunodeficiency diseases due to defects in lymphocytes.

Journal Article N Engl J Med · November 2, 2000 Featured Publication Full text Link to item Cite

Unusual X-linked SCID phenotype due to mutation of the poly-A addition signal of IL2RG.

Journal Article AMERICAN JOURNAL OF HUMAN GENETICS · October 1, 2000 Link to item Cite

Gene therapy for human SCID: dreams become reality.

Journal Article Nat Med · June 2000 Featured Publication Full text Link to item Cite

Thymic function after hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency.

Journal Article N Engl J Med · May 4, 2000 Featured Publication BACKGROUND: Immune function can be restored in infants with severe combined immunodeficiency by transplantation of unfractionated bone marrow from HLA-identical donors or T-cell-depleted marrow stem cells from haploidentical donors, with whom there is a si ... Full text Link to item Cite

Chronic granulomatous disease. Report on a national registry of 368 patients.

Journal Article Medicine (Baltimore) · May 2000 Featured Publication A registry of United States residents with chronic granulomatous disease (CGD) was established in 1993 in order to estimate the minimum incidence of this uncommon primary immunodeficiency disease and characterize its epidemiologic and clinical features. To ... Full text Link to item Cite

Advances in the understanding and treatment of human severe combined immunodeficiency.

Journal Article Immunol Res · 2000 Featured Publication Human severe combined immunodeficiency (SCID) can result from mutations in any one of at least seven different genes, including those for adenosine deaminase, the common cytokine receptor gamma chain, Janus kinase 3, IL-7 receptor alpha chain, recombinase ... Full text Link to item Cite

Transplantation of thymus tissue in complete DiGeorge syndrome.

Journal Article N Engl J Med · October 14, 1999 Featured Publication BACKGROUND: The DiGeorge syndrome is a congenital disorder that affects the heart, parathyroid glands, and thymus. In complete DiGeorge syndrome, patients have severely reduced T-cell function. METHODS: We treated five infants (age, one to four months) wit ... Full text Link to item Cite

Cellular therapy for severe combined immunodeficiency: Transplant options and impact of donor type and graft manipulation on long-term graft function and completeness of immune reconstitution

Journal Article Cancer Research Therapy and Control · September 7, 1999 While the ideal donor of stem cells for an infant with severe combined immunodeficiency (SCID) is an HLA-identical sibling, one of the most important therapeutic advances for this condition over the past two decades has been the development of effective me ... Cite

Genetic linkage of hyper-IgE syndrome to chromosome 4.

Journal Article Am J Hum Genet · September 1999 Featured Publication The hyper-IgE syndrome (HIES) is a rare primary immunodeficiency characterized by recurrent skin abscesses, pneumonia, and highly elevated levels of serum IgE. HIES is now recognized as a multisystem disorder, with nonimmunologic abnormalities of the denti ... Full text Link to item Cite

Treatment of severe combined immunodeficiency.

Journal Article N Engl J Med · July 22, 1999 Full text Link to item Cite

Hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency.

Journal Article N Engl J Med · February 18, 1999 Featured Publication BACKGROUND: Since 1968 it has been known that bone marrow transplantation can ameliorate severe combined immunodeficiency, but data on the long-term efficacy of this treatment are limited. We prospectively studied immunologic function in 89 consecutive inf ... Full text Link to item Cite

Clinical and immunologic spectrum of the hyper IgM syndrome.

Journal Article JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY · January 1, 1999 Link to item Cite

Deficiency of nuclear factor of activated T cells 1 (NFAT1) in combined immunodeficiencies.

Journal Article JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY · January 1, 1999 Link to item Cite

Angelman syndrome: are the estimates too low?

Journal Article Am J Med Genet · December 4, 1998 More than 300 cases of Angelman Syndrome (AS) have been reported. AS is still considered a clinical diagnosis because only approximately 80% of those individuals who meet the clinical criteria will have a maternal deletion of chromosome 15q11-13. Of the re ... Full text Link to item Cite

Defective IL7R expression in T(-)B(+)NK(+) severe combined immunodeficiency.

Journal Article Nat Genet · December 1998 Featured Publication Severe combined immunodeficiency (SCID) is caused by multiple genetic defects. The most common form of SCID, X-linked SCID (XSCID), results from mutations in IL2RG (ref. 4), which encodes the common cytokine receptor gamma chain (gamma(c)) that is shared b ... Full text Link to item Cite

Role of JAK3 in CD40-mediated signaling.

Journal Article Blood · October 1, 1998 Featured Publication CD40 is a member of the tumor necrosis factor receptor family and plays an important role in B-cell survival, growth, differentiation, and isotype switching. Recently, CD40 has been shown to associate with JAK3, a member of the family of Janus Kinases, whi ... Link to item Cite

Role of JAK3 in CD40 mediated signaling

Journal Article FASEB Journal · March 20, 1998 CD40 is a member of the TNF receptor family and plays an important role in B cell survival, growth, differentiation and isotype switching. Recently, CD40 has been shown to associate with JAK3, a member of the Janus Kinase family which are non-receptor prot ... Cite

Effect of genetic type of SCID on T, B, and NK cell function following bone marrow stem cell transplantation

Journal Article FASEB Journal · March 20, 1998 The purpose of this study was to evaluate the effect of a mutated microenvironment on the development of T, B and NK cell function in 62 SCIDs following non-ablative T cell-depleted bone marrow stem cell transplantion. 34 SCIDs were γc-deficient, 10 were A ... Cite

Seven novel mutations in the adenosine deaminase (ADA) gene in patients with severe and delayed onset combined immunodeficiency: G74C, V129M, G140E, R149W, Q199P, 462delG, and E337del. Mutations in brief no. 142. Online.

Journal Article Hum Mutat · 1998 The degree of immunodeficiency associated with deficiency of adenosine deaminase (ADA) is variable. Most patients are infants with severe combined immunodeficiency (SCID), but in about 20 percent immune dysfunction becomes manifest later in childhood ("del ... Full text Link to item Cite

Complete DiGeorge syndrome: persistence of profound immunodeficiency.

Journal Article J Pediatr · January 1998 Featured Publication OBJECTIVE: DiGeorge syndrome is characterized by developmental defects of the heart, parathyroid glands, and thymus. The objective of this study was to determine whether T-cell function spontaneously improves in patients with DiGeorge syndrome who have pro ... Full text Link to item Cite

T cell activation defect presenting with elevated IgE, eczema and severe food allergies

Journal Article JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY · January 1, 1998 Link to item Cite

Influence of host HLA type on mixed leukocyte (ML) responsiveness of haploidentical donor T cells

Journal Article JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY · January 1, 1998 Link to item Cite

Specificity and function of "natural" antibodies in immunodeficient subjects: clues to B cell lineage and development.

Journal Article J Clin Immunol · July 1997 Featured Publication The origin of natural antibodies has long been a subject of controversy. Polyreactive natural antibodies recognize multiple ligands and are thought to arise from B1 B cells. Natural antibodies against carbohydrate antigens such as Gal alpha 1-3Gal or again ... Full text Link to item Cite

Mutation analysis of IL2RG in human X-linked severe combined immunodeficiency.

Journal Article Blood · March 15, 1997 Featured Publication Severe combined immunodeficiency (SCID) is a syndrome of profoundly impaired cellular and humoral immunity. In humans, SCID is most commonly caused by mutations in the X-linked gene IL2RG, which encodes the common gamma chain, gamma c, of the leukocyte rec ... Link to item Cite

Gastroesophageal reflux and severe combined immunodeficiency.

Journal Article J Allergy Clin Immunol · March 1997 Featured Publication BACKGROUND: Gastrointestinal and respiratory symptoms and failure to thrive not associated with infections or medications were noted in patients with severe combined immunodeficiency. OBJECTIVE: The aim of our study was to determine the frequency of gastro ... Full text Link to item Cite

Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants.

Journal Article J Pediatr · March 1997 Featured Publication OBJECTIVE: To determine the relative frequencies of the different genetic forms of severe combined immunodeficiency (SCID) and whether there are distinctive characteristics of the particular genotypes. STUDY DESIGN: The demographic, genetic, and immunologi ... Full text Link to item Cite

Normalization of the peripheral blood T cell receptor V beta repertoire after cultured postnatal human thymic transplantation in DiGeorge syndrome.

Journal Article J Clin Immunol · March 1997 Featured Publication Complete DiGeorge syndrome is an immunodeficiency disease characterized by thymic aplasia and the absence of functioning peripheral T cells. A patient with this syndrome was transplanted with cultured postnatal human thymic tissue. Within 5 weeks of transp ... Full text Link to item Cite

Successful formation of a chimeric human thymus allograft following transplantation of cultured postnatal human thymus.

Journal Article J Immunol · January 15, 1997 Featured Publication Transplantation of cultured postnatal human thymus was performed in a patient with complete DiGeorge syndrome. Biopsy of the graft 3 mo after implantation revealed normal CD1+ thymocytes in thymic cortical epithelial regions and CD1- thymocytes in thymic m ... Link to item Cite

Mycobacterium fortuitum infection occurring after a punch biopsy procedure.

Journal Article Pediatr Dermatol · 1997 Mycobacterium fortuitum is a rapidly growing atypical mycobacterium frequently reported as a postsurgical wound complication from a major surgical procedure. We present a unique case of M. fortuitum infection occurring in a 4-year-old boy after a minor pun ... Full text Link to item Cite

Practice Parameters for the Diagnosis and Management of Immunodeficiency

Journal Article Pediatric Asthma, Allergy & Immunology · January 1997 Full text Cite

Multicenter crossover comparison of the safety and efficacy of Intraglobin-F with Gamimune-N, Sandoglobulin, and Gammagard in patients with primary immunodeficiency diseases.

Journal Article J Clin Immunol · January 1997 Featured Publication The safety and clinical efficacy of a liquid, beta-propiolactone-stabilized intravenous gamma-globulin, Intraglobin-F, was evaluated in a multicenter, double-blind study comparing Intraglobin-F to Gamimune-N, Sandoglobulin, or Gammagard. beta-Propiolactone ... Full text Link to item Cite

Complete DiGeorge syndrome: Persistence of profound immunodeficiency.

Journal Article JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY · January 1, 1997 Link to item Cite

Clinical features in patients with mutations in the immunoglobulin mu heavy chain gene.

Journal Article JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY · January 1, 1997 Link to item Cite

Bone marrow transplantation for SCID in the neonatal period.

Journal Article JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY · January 1, 1997 Link to item Cite

Mutations in the mu heavy-chain gene in patients with agammaglobulinemia.

Journal Article N Engl J Med · November 14, 1996 Featured Publication BACKGROUND: Most patients with congenital hypogammaglobulinemia and absent B cells are males with X-linked agammaglobulinemia, which is caused by mutations in the gene for Bruton's tyrosine kinase (Btk); however, there are females with a similar disorder w ... Full text Link to item Cite

Gastrointestinal pathology in patients with common variable immunodeficiency and X-linked agammaglobulinemia.

Journal Article Am J Surg Pathol · October 1996 Featured Publication Review of the medical records of 43 patients with common variable immunodeficiency (CVID) and 23 patients with X-linked agammaglobulinemia (XLAG) revealed a high incidence of chronic gastrointestinal complaints, most commonly diarrhea. Thirty-eight biopsie ... Full text Link to item Cite

Thymic transplantation for digeorge syndrome.

Journal Article FASEB JOURNAL · April 30, 1996 Link to item Cite

Human autosomal recessive SCID due to Jak3 deficiency.

Journal Article FASEB JOURNAL · April 30, 1996 Link to item Cite

Practice parameters for the diagnosis and management of immunodeficiency. The Clinical and Laboratory Immunology Committee of the American Academy of Allergy, Asthma, and Immunology (CLIC-AAAAI).

Journal Article Ann Allergy Asthma Immunol · March 1996 Featured Publication In this brief review, only the most useful immunologic tests available for defining host defects that lead to susceptibility to infection have been emphasized. It should be pointed out that those evaluations and tests ordered by the physician will rule out ... Full text Link to item Cite

Correction of purine nucleoside phosphorylase deficiency by transplantation of allogeneic bone marrow from a sibling.

Journal Article J Pediatr · March 1996 Featured Publication Deficiency of the purine salvage pathway enzyme purine nucleoside phosphorylase causes a combined immunodeficiency and neurologic abnormalities and is usually fatal in childhood. We report the first successful transplantation of bone marrow from a sibling ... Full text Link to item Cite

Gastroesophageal reflux and severe combined immunodeficiency

Conference JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY · 1996 Cite

Deficiency of janus kinase 3 (Jak3) protein in severe combined immunodeficiency (SCID)

Conference JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY · 1996 Cite

Effects of allergy/asthma drugs on IgE synthesis.

Conference JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY · 1996 Cite

Mutation of Jak3 in a patient with SCID: essential role of Jak3 in lymphoid development.

Journal Article Science · November 3, 1995 Featured Publication Males with X-linked severe combined immunodeficiency (XSCID) have defects in the common cytokine receptor gamma chain (gamma c) gene that encodes a shared, essential component of the receptors of interleukin-2 (IL-2), IL-4, IL-7, IL-9, and IL-15. The Janus ... Full text Link to item Cite

DEVELOPMENT OF T-CELL FUNCTION AFTER POSTNATAL THYMIC TRANSPLANTATION FOR DIGEORGE-SYNDROME

Journal Article AMERICAN JOURNAL OF HUMAN GENETICS · October 1, 1995 Link to item Cite

Two mutational hotspots in the interleukin-2 receptor gamma chain gene causing human X-linked severe combined immunodeficiency.

Journal Article Am J Hum Genet · September 1995 Human severe combined immunodeficiency (SCID), a syndrome of profoundly impaired cellular and humoral immunity, is most commonly caused by mutations in the X-linked gene for interleukin-2 (IL-2) receptor gamma chain (IL2RG). For mutational analysis of IL2R ... Link to item Cite

IMMUNOBIOLOGY OF HUMAN SEVERE COMBINED IMMUNODEFICIENCY

Journal Article FASEB JOURNAL · March 10, 1995 Link to item Cite

PNEUMATOSIS-INTESTINALIS IN CHILDREN WITH PRIMARY IMMUNODEFICIENCY

Conference JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY · 1995 Cite

DEVELOPMENT OF T-CELL FUNCTION AFTER POSTNATAL THYMIC TRANSPLANTATION FOR DIGEORGE-SYNDROME

Conference JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY · 1995 Cite

The hyper-IgE syndrome

Conference PEDIATRIC DERMATOLOGY · January 1, 1995 Link to item Cite

SUCCESSFUL BONE-MARROW TRANSPLANTATION (BMT) FOR PURINE NUCLEOSIDE PHOSPHORYLASE (PNP) DEFICIENCY

Journal Article JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY · January 1, 1995 Link to item Cite

Atypical X-linked agammaglobulinemia.

Journal Article N Engl J Med · October 6, 1994 Link to item Cite

ATYPICAL X-LINKED AGAMMAGLOBULINEMIA - REPLY

Journal Article NEW ENGLAND JOURNAL OF MEDICINE · October 6, 1994 Link to item Cite

Hyper IgM syndrome associated with defective CD40-mediated B cell activation.

Journal Article J Clin Invest · October 1994 Recent studies show that most patients with X-linked hyper IgM syndrome have defects in the gene for CD40 ligand. We evaluated 17 unrelated males suspected of having X-linked hyper IgM syndrome. Activated T cells from 13 of the 17 patients failed to bind a ... Full text Link to item Cite

Breakthroughs in the understanding and therapy of primary immunodeficiency.

Journal Article Pediatr Clin North Am · August 1994 In the 40 years since Ogden Bruton discovered agammaglobulinemia, more than 50 additional immunodeficiency syndromes have been described. Until recently, there was little insight into the fundamental problems underlying a majority of these conditions. Rece ... Full text Link to item Cite

Growth-dependent regulation of cellular ceramides in human T-cells.

Journal Article Biochim Biophys Acta · June 2, 1994 The role of ceramide, a putative lipid second messenger in the regulation of cell growth, was investigated in T-lymphocytes. An inverse relationship between the cellular concentrations of ceramide and the proliferative capacity of human T-lymphocytes was o ... Full text Link to item Cite

Assessing inheritance of agammaglobulinemia.

Journal Article N Engl J Med · May 26, 1994 Full text Link to item Cite

IGE SYNTHESIS BY B-CELLS FROM IMMUNODEFICIENCY PATIENTS

Journal Article FASEB JOURNAL · March 18, 1994 Link to item Cite

IGE SYNTHESIS BY B-CELLS FROM IMMUNODEFICIENCY PATIENTS

Conference JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY · 1994 Cite

Haploidentical bone marrow stem cell transplantation in human severe combined immunodeficiency.

Journal Article Semin Hematol · October 1993 From May 1992 to March 1993, 50 infants with severe combined immunodeficiency (SCID) were given bone marrow transplants at Duke University Medical Center. None received chemotherapy for conditioning or for graft-versus-host disease (GVHD) prophylaxis. Fort ... Link to item Cite

T-CELL FUNCTION IN COMMON VARIABLE IMMUNODEFICIENCY (CVID)

Conference JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY · 1993 Cite

CELLULAR THERAPY FOR SEVERE COMBINED IMMUNODEFICIENCY (SCID) - ANALYSIS AT 10 YEARS

Conference JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY · 1993 Cite

Haploidentical bone marrow stem cell transplantation in human severe combined immunodeficiency

Journal Article Seminars in Hematology · January 1, 1993 From May 1992 to March 1993, 50 infants with severe combined immunodeficiency (SCID) were given bone marrow transplants at Duke University Medical Center. None received chemotherapy for conditioning or for graft- versus-host disease (GVHD) prophylaxis. For ... Cite

Immunodeficiency diseases.

Journal Article JAMA · November 25, 1992 Link to item Cite

Antibody responses to bacteriophage phi X174 in patients with adenosine deaminase deficiency.

Journal Article Blood · September 1, 1992 Adenosine deaminase (ADA) deficiency and its biochemical consequences cause severe combined immunodeficiency (SCID). Treatment strategies, designed to correct the biochemical abnormalities, include transplantation of matched bone marrow or haploidentical b ... Link to item Cite

Mechanism of pokeweed mitogen inhibition of rhIL-4-induced human IgE synthesis.

Journal Article Cell Immunol · April 1992 Pokeweed mitogen (PWM) suppressed rhIL-4-induced IgE synthesis in a concentration-dependent manner. When rhIL-4 was present from Day 0, PWM added to cultures on Day 0 or 3 inhibited MNC IgE synthesis but not when it was added on Day 6 or later. The concent ... Full text Link to item Cite

IMMUNODEFICIENCY AND ALLERGY

Conference PROGRESS IN ALLERGY AND CLINICAL IMMUNOLOGY, VOL 2, KYOTO · 1992 Cite

ABNORMAL HUMORAL RESPONSE TO PNEUMOCOCCAL IMMUNIZATION IN C2 DEFICIENCY

Conference JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY · 1992 Cite

Mononuclear cells from patients with the hyper-IgE syndrome produce little IgE when they are stimulated with recombinant human interleukin-4.

Journal Article J Allergy Clin Immunol · November 1991 To investigate whether B cells from patients with the hyper-IgE syndrome are more sensitive to the effects of interleukin-4 in vitro than B cells of normal or atopic individuals, we stimulated blood mononuclear cells (MNC) with varying doses of recombinant ... Full text Link to item Cite

Donor type natural killer cells after haploidentical T cell-depleted bone marrow stem cell transplantation in a patient with adenosine deaminase-deficient severe combined immunodeficiency.

Journal Article Clin Immunol Immunopathol · August 1991 T cell-depleted haploidentical (parental) bone marrow stem cell transplants are given to most infants with the syndrome of severe combined immunodeficiency (SCID) because they have no available HLA-identical sibling potential donors. Since they usually do ... Full text Link to item Cite

Rapid infusion of Sandoglobulin in patients with primary humoral immunodeficiency.

Journal Article J Allergy Clin Immunol · July 1991 We studied 16 patients with primary disorders of humoral immunity to determine the practicality of infusing intravenous gamma globulin at rates of infusion and concentrations higher than the 4 mg/kg/min and 6% currently recommended. In the first portion of ... Full text Link to item Cite

Antibody responses to protein, polysaccharide, and phi X174 antigens in the hyperimmunoglobulinemia E (hyper-IgE) syndrome.

Journal Article J Allergy Clin Immunol · April 1991 To investigate whether an underlying defect in antibody (Ab)-forming capacity could contribute to the infection susceptibility of patients with hyper-IgE syndrome, we evaluated 11 such patients for their responses to bacteriophage phi X174 (phi X174), diph ... Full text Link to item Cite

Graft versus graft and graft versus host reactions after HLA‐identical bone marrow transplantation in a patient with severe combined immunodeficiency with transplacentally acquired lymphoid chimerism

Journal Article Pediatric Allergy and Immunology · January 1, 1991 We describe a patient with severe combined immunodeficiency and transplacental transfer of maternal T cells who received an unfractionated HLA‐identical sibling bone marrow transplant without prior conditioning. He presented prior to transplantation with a ... Full text Cite

T-CELL RECONSTITUTION OF SCID RECIPIENTS GRAFTED WITH T-DEPLETED BONE-MARROW

Conference PROGRESS IN IMMUNE DEFICIENCY III · 1991 Cite

X-linked severe combined immunodeficiency. Diagnosis in males with sporadic severe combined immunodeficiency and clarification of clinical findings.

Journal Article J Clin Invest · May 1990 Over 80% of infants with severe combined immunodeficiency (SCID) of unknown genetic etiology are males, yet less than a third of these affected males have a family history of X-linked disease. To help identify new mutations of the X-linked SCID gene and to ... Full text Link to item Cite

Recombinant human IL-4 induces IgE and IgG synthesis by normal and atopic donor mononuclear cells. Similar dose response, time course, requirement for T cells, and effect of pokeweed mitogen.

Journal Article J Immunol · March 15, 1990 Unfractionated human blood mononuclear cells (MNC) from normal and atopic donors cultured in enriched Iscove's modified Dulbecco's medium supplemented with 10% FCS responded similarly to stimulation with purified human rIL-4 (rhIL-4) with respect to the co ... Link to item Cite

Development of multiple monoclonal serum immunoglobulins (multiclonal gammopathy) following both HLA-identical unfractionated and T cell-depleted haploidentical bone marrow transplantation in severe combined immunodeficiency.

Journal Article J Clin Immunol · March 1990 We have identified five patients with severe combined immunodeficiency (SCID) who developed multiple monoclonal serum immunoglobulin components (multiclonal gammopathy) following bone marrow transplantation. Four patients received haploidentical bone marro ... Full text Link to item Cite

A cell culture system that enhances mononuclear cell IgE synthesis induced by recombinant human interleukin-4.

Journal Article J Immunol Methods · February 9, 1990 A new culture system is described in which recombinant human interleukin-4 (rhIL-4) consistently induces the synthesis of large quantities of IgE by human blood mononuclear cells (MNC). Unfractionated MNC were cultured in complete Iscove's modified Dulbecc ... Full text Link to item Cite

RETROVIRAL GENE-TRANSFER OF HUMAN ADENOSINE-DEAMINASE INTO HEMATOPOIETIC-CELLS

Conference EXPERIMENTAL HEMATOLOGY TODAY - 1989 · 1990 Cite

Modified MHC restriction of donor-origin T cells in humans with severe combined immunodeficiency transplanted with haploidentical bone marrow stem cells.

Journal Article J Immunol · September 1, 1989 The choice of class II MHC determinants that serve as self-recognition elements for murine CD4+ T cells is thought to be determined by the environment in which T cells mature rather than their genotype. Patients with severe combined immunodeficiency (SCID) ... Link to item Cite

Comparison of Bitolterol Mesylate and Isoproterenol by Metered-Dose Inhaler for Regular, Long-Term Treatment in Asthmatic Children

Journal Article Pediatric Asthma, Allergy and Immunology · January 1, 1989 The objective of this study was to compare the efficacy and safety of bitolterol mesylate and isoproterenol hydrochloride, two sprays by metered-dose inhaler three times a day for 3 months in 240 asthmatic children ages 4–12 years. In this double-blind, ra ... Full text Cite

IGE AND THE PATHOGENESIS OF ATOPIC ECZEMA

Conference PROGRESS IN ALLERGY AND CLINICAL IMMUNOLOGY · 1989 Cite

ANTIBODY-RESPONSES IN THE HYPER IMMUNOGLOBULINEMIA-E (HYPER IGE) SYNDROME

Conference JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY · 1989 Cite

Accelerated development of immunity following transplantation of maternal marrow stem cells into infants with severe combined immunodeficiency and transplacentally acquired lymphoid chimerism.

Journal Article Clin Exp Immunol · April 1988 Transplacentally acquired lymphoid chimerism was detected in two infants with severe combined immunodeficiency (SCID) by two-colour cytofluorographic studies. These cells had no demonstrable function in studies in vitro. Following T cell-depleted maternal ... Link to item Cite

Immune Thrombocytopenia Treated with High-Dose Intravenous Gamma Globulin and Corticosteroids in Two Patients with Wiskott-Aldrich Syndrome

Journal Article Pediatric Asthma, Allergy and Immunology · January 1, 1988 Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disorder characterized by thrombocytopenia, atopic dermatitis, and susceptibility to recurrent infections. The thrombocytopenia, due to an intrinsic platelet defect, is only rarely complicated by ... Full text Cite

Food allergy.

Journal Article JAMA · November 27, 1987 Link to item Cite

Allergic skin disorders.

Journal Article JAMA · November 27, 1987 Link to item Cite

Immunodeficiency diseases.

Journal Article JAMA · November 27, 1987 Link to item Cite

Adenosine deaminase and purine nucleoside phosphorylase deficiencies: evaluation of therapeutic interventions in eight patients.

Journal Article J Clin Immunol · September 1987 The courses of six patients with adenosine deaminase (ADA) and two with purine nucleoside phosphorylase (PNP) deficiencies were evaluated before and after therapy. The heterogeneity of immunologic and clinical parameters was striking in each enzyme deficie ... Full text Link to item Cite

Studies of human bone marrow treated with soybean lectin and sheep erythrocytes: stepwise analysis of cell morphology, phenotype and function.

Journal Article Clin Exp Immunol · June 1987 Morphological, phenotypic and functional analyses were made of cells obtained at each step after successive treatments of 23 separate human bone marrow suspensions with soybean lectin and sheep erythrocytes (SRBC). The average total number of nucleated cel ... Link to item Cite

Identification of a deletion in the adenosine deaminase gene in a child with severe combined immunodeficiency.

Journal Article J Immunol · May 15, 1987 A patient with adenosine deaminase-deficient severe combined immunodeficiency is described whose defect is secondary to deletion of a portion of the ADA structural gene. In Southern analyses, DNA from this patient does not hybridize to a genomic probe that ... Link to item Cite

Modified responses to recipient and donor B cells by genetically donor T cells from human haploidentical bone marrow chimeras.

Journal Article J Immunol · April 1, 1987 After administration of haploidentical stem cells to infants with severe combined immunodeficiency disease (SCID), mature T cells of donor karyotype appear later in the recipient without causing graft-vs-host disease (GVHD). To investigate the effect of th ... Link to item Cite

Treatment of adenosine deaminase deficiency with polyethylene glycol-modified adenosine deaminase.

Journal Article N Engl J Med · March 5, 1987 We treated two children who had adenosine deaminase deficiency and severe combined immunodeficiency disease by injecting bovine adenosine deaminase modified by conjugation with polyethylene glycol. The modified enzyme was rapidly absorbed after intramuscul ... Full text Link to item Cite

Certification in Diagnostic Laboratory Immunology

Journal Article Pediatric Asthma, Allergy and Immunology · January 1, 1987 Full text Cite

Successful treatment of autoimmune hemolytic anemia in common variable immunodeficiency with high-dose intravenous gamma globulin.

Journal Article Am J Med · January 1987 A patient with common variable immunodeficiency and autoimmune hemolytic anemia was given high-dose (450 mg/kg) intravenous gamma globulin (Sandoglobulin) for five days, followed by single doses of 100 to 200 mg/kg at four-week intervals or whenever the he ... Full text Link to item Cite

Immunoglobulin prophylaxis in patients with antibody deficiency syndromes and anti-IgA antibodies.

Journal Article J Clin Immunol · January 1987 Sera from three hundred five patients with immunoglobulin deficiencies were analyzed for the presence of anti-IgA antibodies by using indirect agglutination and enzyme-linked immunosorbent assay (ELISA). Anti-IgA antibodies were observed in 15 of 68 (22%) ... Full text Link to item Cite

ANAPHYLAXIS AFTER ADMINISTRATION OF GAMMA-GLOBULIN FOR HYPOGAMMAGLOBULINEMIA - REPLY

Journal Article NEW ENGLAND JOURNAL OF MEDICINE · August 21, 1986 Link to item Cite

Humoral immunodeficiency.

Journal Article Clin Immunol Immunopathol · July 1986 Humoral (or antibody) immunodeficiency syndromes may occur as apparent congenital or acquired abnormalities, with deficiencies in all or in only some classes of immunoglobulins. Most patients are recognized because of recurrent infections with high-grade e ... Full text Link to item Cite

Multicenter, double-blind, placebo-controlled trial of terfenadine suspension in the treatment of fall-allergic rhinitis in children.

Journal Article J Allergy Clin Immunol · July 1986 Children, aged 6 to 12 years, with fall-pollenosis symptoms, were evaluated for their response to a new antihistamine, terfenadine, in a multicenter (six centers) 1-week, double-blind, placebo-controlled trial. All had positive skin tests to grass/weed pol ... Full text Link to item Cite

Variability in B cell maturation and differentiation in X-linked agammaglobulinemia.

Journal Article Clin Exp Immunol · July 1986 Among seven males with X-linked agammaglobulinemia in an extended pedigree, serum immunoglobulins and antibodies were extremely low in all but one who had a normal IgA (78 mg/dl) and tetanus antibodies (1:19,683). Following bacteriophage phi X 174 immuniza ... Link to item Cite

Variability of IgE protein measurement in cell-culture supernatants: results from a multicenter collaborative study.

Journal Article J Allergy Clin Immunol · June 1986 The sensitivity, specificity, and precision of immunoassays for quantitation of IgE in cell-culture supernatants were tested in a multicenter trial involving 22 laboratories. Fourteen coded test samples included cell-culture medium alone, culture medium wi ... Full text Link to item Cite

Development of immunity in human severe primary T cell deficiency following haploidentical bone marrow stem cell transplantation.

Journal Article J Immunol · April 1, 1986 Recent advances in the prevention of graft-vs-host disease (GVHD) have allowed the use of haploidentical bone marrow cells for correction of lethal genetic defects of the immune system. Sequential analyses of blood lymphocyte phenotypes and functions were ... Link to item Cite

Alpha-fetoprotein levels in immunodeficiency.

Journal Article N Engl J Med · March 13, 1986 Full text Link to item Cite

Appearance of multiple benign paraproteins during early engraftment of soy lectin T cell-depleted haploidentical bone marrow cells in severe combined immunodeficiency.

Journal Article J Clin Immunol · March 1986 Recent advances in the prevention of graft-versus-host disease through postthymic T-cell depletion have allowed the use of haploidentical bone marrow cells for immunologic reconstitution of severe combined immunodeficiency disease. We report a male infant ... Full text Link to item Cite

Introduction

Journal Article Clinical Immunology and Immunopathology · January 1, 1986 Full text Open Access Cite

Certification in diagnostic laboratory immunology

Journal Article Annals of Internal Medicine · January 1, 1986 Full text Cite

IMMUNODEFICIENCY WITH PURINE SALVAGE PATHWAY ENZYME DEFICIENCIES - EVALUATION OF THERAPIES

Conference JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY · January 1, 1986 Link to item Cite

Workshop 7: Special pediatric problems

Journal Article The Journal of Allergy and Clinical Immunology · January 1, 1986 The assessment of NBAAD in pediatric patients is essential because asthma is common in children. Special problems of drug assessment in children should be considered in the context of various pediatric growth periods: (1) adolescence; (2) childhood (2 year ... Full text Cite

133 Variability in the quantitation of IgE protein in cell culture supernatants

Conference Journal of Allergy and Clinical Immunology · January 1985 Full text Cite

64 Lymphocyte responses to pollen allergens: Effect of polymerized allergen immunotherapy

Conference Journal of Allergy and Clinical Immunology · January 1985 Full text Cite

IgE Fc receptor positive T and B lymphocytes in patients with the hyper IgE syndrome.

Journal Article Clin Exp Immunol · January 1985 The percentages of peripheral blood lymphocytes (PBL), bearing Fc receptors for IgE (Fc epsilon R) and IgG (Fc gamma R) were determined in four patients with the hyper IgE syndrome by a rosette assay employing IgE and IgG coated fixed ox erythrocytes. The ... Link to item Cite

IgE Fc receptor positive T, B and NK cells in patients with the hyper-IgE syndrome.

Journal Article Int Arch Allergy Appl Immunol · 1985 Patients with the hyper-IgE syndrome have greatly elevated percentages of IgE Fc receptor (Fc epsilon R)-positive B cells, but they have less than 0.1% Fc epsilon R+ T cells (T epsilon cells) and few, if any, Fc epsilon R+ natural killer cells. They also h ... Full text Link to item Cite

Successful immune reconstitution in severe combined immunodeficiency despite Epstein-Barr virus and cytomegalovirus infections.

Journal Article Clin Immunol Immunopathol · January 1985 Cytomegalovirus (CMV) and Epstein-Barr virus (EBV), frequently found in the acquired immune deficiency syndrome (AIDS), have been suspected of contributing to the latter immunodeficiency. The ability of normal HLA-identical sibling bone marrow to reconstit ... Full text Link to item Cite

γ-Globulin replacement

Journal Article Clinics in Immunology and Allergy · January 1, 1985 Cite

GAMMA-GLOBULIN REPLACEMENT

Journal Article CLINICS IN IMMUNOLOGY AND ALLERGY · January 1, 1985 Link to item Cite

Severe combined immunodeficiency with natural killer-cell predominance: abrogation of graft-versus-host disease and immunologic reconstitution with HLA-identical bone marrow cells.

Journal Article J Allergy Clin Immunol · June 1984 A 3 1/2-month-old infant with severe combined immunodeficiency was found to have an unusual blood lymphocyte phenotype. Thirty percent of her cells formed rosettes with sheep erythrocytes, but only 7.9% reacted with the pan T monoclonal antibody OKT3, and ... Full text Link to item Cite

Use of a new chemically modified intravenous IgG preparation in severe primary humoral immunodeficiency: clinical efficacy and attempts to individualize dosage.

Journal Article Clin Immunol Immunopathol · April 1984 Sixteen patients with severe primary humoral immunodeficiency diseases were treated intravenously for 12 months with a beta-propiolactone stabilized preparation of IgG (Intraglobin) as part of a phase II study of safety and efficacy. In order to evaluate t ... Full text Link to item Cite

IgE Fc receptor positive lymphocytes in patients with the hyper-IgE syndrome

Journal Article Federation Proceedings · January 1, 1984 Cite

Immunodeficiency.

Journal Article J Allergy Clin Immunol · December 1983 Full text Link to item Cite

In Reply

Journal Article JAMA: The Journal of the American Medical Association · November 25, 1983 Full text Cite

Demonstration of abnormalities in expression of thymic epithelial surface antigens in severe cellular immunodeficiency diseases.

Journal Article J Immunol · March 1983 Thymic epithelium from three patients with severe cellular immunodeficiency diseases were compared with age-matched normal thymic epithelium using three markers of human thymic epithelium and antibodies against thymosin alpha 1, thymopoietin, and thymosin ... Link to item Cite

ATOPIC-DERMATITIS - A NEW THERAPEUTIC REGIMEN - REPLY

Journal Article JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION · 1983 Full text Cite

POSSIBLE IMMUNOGLOBULIN DEFICIENCY - REPLY

Journal Article JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION · 1983 Full text Cite

303 Synovial lymphocyte phenotypes in the inflammatory arthritis of x-linked agammaglobulinemia

Conference Journal of Allergy and Clinical Immunology · January 1983 Full text Cite

181 Individualization of gamma globulin dosage in patients with humoral immunodeficiency

Conference Journal of Allergy and Clinical Immunology · January 1983 Full text Cite

178 T cells and subsets in a large population of primary immunodeficiency patients

Conference Journal of Allergy and Clinical Immunology · January 1983 Full text Cite

FOOD ALLERGY - REPLY

Journal Article JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION · January 1, 1983 Link to item Cite

Food allergy.

Journal Article JAMA · November 26, 1982 Link to item Cite

Common "allergic' skin diseases.

Journal Article JAMA · November 26, 1982 Link to item Cite

Monoclonal immunoglobulin-secreting lymphoma in a patient with severe combined immunodeficiency disease.

Journal Article Clin Exp Immunol · June 1982 A 3.5 year old boy with X-linked severe combined immunodeficiency disease (SCID), who had been in laminar flow isolation throughout his life, developed a B cell tumour producing up to 3008 mg/dl of an IgM kappa paraprotein 1 month after infusion of both li ... Link to item Cite

Effects of hydrocortisone (HC) on IgE synthesis by cultured human mononuclear cells (MNC)

Journal Article Journal of Allergy and Clinical Immunology · January 1, 1982 Full text Cite

Elevated IgA concentration in milk produced by mothers delivered of preterm infants.

Journal Article J Pediatr · September 1981 Concentrations of immunoglobulins G, M, and A were measured by double-antibody radioimmunoassay in morning milk samples collected during the first month postpartum from 35 mothers delivered of preterm infants and 14 mothers delivered of term infants. Mean ... Full text Link to item Cite

Human IgE synthesis in vitro: a reassessment.

Journal Article J Immunol · September 1981 Link to item Cite

Fungal infection in chronic granulomatous disease. The importance of the phagocyte in defense against fungi.

Journal Article Am J Med · July 1981 Among 245 cases of chronic granulomatous disease which were evaluated, fungal infection occurred in 20.4 percent. Fungi encountered include Aspergillus, Torulopsis and Candida. In 18 percent of the patients with fungal infection, the disease was limited to ... Full text Link to item Cite

Regulation of IgE synthesis: introduction.

Journal Article Fed Proc · June 1981 Link to item Cite

In vitro studies of IgE synthesis by human blood mononuclear cells.

Journal Article Fed Proc · June 1981 IgE was detected in increasing quantities in supernatants of cultured human blood mononuclear cells, with peak amounts being found in 7 to 12-day cultures. Inhibitors of protein synthesis or of cell division reduced IgE production. Significantly greater am ... Link to item Cite

Immunologic studies before and after splenectomy in a patient with the Wiskott-Aldrich syndrome.

Journal Article J Clin Immunol · January 1981 Sequential studies of cellular and humoral immunity were conducted in an infant with the Wiskott-Aldrich syndrome prior to and after a splenectomy for uncontrollable hemorrhage. All measures of cellular immunity showed gradual improvement during the 8-mont ... Full text Link to item Cite

Safety and patient acceptability of intravenous immune globulin in 10% maltose.

Journal Article Lancet · November 29, 1980 The safety and patient acceptance of two preparations of modified (reduced and alkylated) immune globulin for intravenous use were evaluated; one preparation was formulated as a 5% solution in 10% maltose (IGIV-maltose), the other did not contain maltose ( ... Full text Link to item Cite

Phenytoin hypersensitivity.

Journal Article J Allergy Clin Immunol · August 1980 Full text Link to item Cite

Serum IgD concentrations in normal infants, children, and adults and in patients with elevated IgE.

Journal Article J Pediatr · March 1980 Earlier studies of serum immunoglobulin D concentrations were hampered by the insensitivity of single radial diffusion, since most normal individuals have IgD concentrations in a range below or near the limit of sensitivity of that method. Using a sensitiv ... Full text Link to item Cite

REGULATION OF IGE SYNTHESIS INVITRO - EFFECTS OF MITOGENS AND IRRADIATION OF T-CELLS

Conference JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY · 1980 Cite

Hyperimmunoglobulinemia E syndrome: radiographic observations.

Journal Article Radiology · July 1979 Susceptibility to recurrent staphylococcal cutaneous and respiratory infections beginning in infancy associated with extreme hyperimmunoglobulinemia E is a recently described primary immunodeficiency syndrome. Other clinical features include depressed cell ... Full text Link to item Cite

Use of a human plaque-forming cell assay to study peripheral blood bursa-equivalent cell activation and excessive suppressor cell activity in humoral immunodeficiency.

Journal Article J Clin Invest · May 1979 A plaque assay that detects human mononuclear blood cells producing immunoglobulin (Ig)M antibody to sheep erythrocytes was investigated for its usefulness in studying B-cell activation and regulation in 24 patients with humoral immunodeficiency. Cells fro ... Full text Link to item Cite

In vivo inactivation of erythrocyte S-adenosylhomocysteine hydrolase by 2'-deoxyadenosine in adenosine deaminase-deficient patients.

Journal Article J Clin Invest · April 1979 The cytotoxic nucleoside 2'-deoxyadenosine is excreted in excessive amounts by individuals with genetic deficiency of adenosine deaminase, and may be in part responsible for the severe combined immune dysfunction from which they suffer. Earlier studies fro ... Full text Link to item Cite

ELEVATED SERUM IGD IN CHILDREN WITH HIGH SERUM IGE CONCENTRATIONS

Conference JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY · 1979 Cite

ANTIBODY DEFICIENCY WITH NEAR-NORMAL IMMUNOGLOBULINS

Conference JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY · 1979 Cite

Advances in asthma/allergy.

Journal Article Pediatric nursing · 1979 Cite

Advances in asthma/allergy.

Journal Article Pediatr Nurs · 1979 Link to item Cite

CHILD WITH ASTHMA

Journal Article DRUG THERAPY · January 1, 1979 Link to item Cite

161. In vitro studies of human IgE biosynthesis

Conference Journal of Allergy and Clinical Immunology · March 1978 Full text Cite

Natural killing in immunodeficient patients.

Journal Article J Immunol · March 1978 Natural killing (NK) capacity was evaluated in peripheral blood mononuclear cells from 14 patients with well defined primary immunodeficiency disorders and compared with the activity of those cells in antibody-dependent cell-mediated cytotoxicity (ADCC) as ... Link to item Cite

Transient hypogammaglobulinemia of infancy: review of the literature, clinical and immunologic features of 11 new cases, and long-term follow-up.

Journal Article J Pediatr · March 1978 The clinical and immunologic features of 11 patients with transient hypogammaglobulinemia of infancy are reported and compared with those of the 16 patients previously reported. Seven were re-evaluated three to ten years after infancy. Two groups were iden ... Full text Link to item Cite

Antibody-dependent cellular cytotoxicity in primary immunodeficiency diseases and with normal leukocyte subpopulations. Importance of the type of target.

Journal Article J Clin Invest · January 1978 To gain insight into a possible role for antibody-dependent cell-mediated cytotoxicity in vivo, we examined the ability of leukocytes from 28 patients with primary immunodeficiency and from 20 normal controls to lyse three different types of antibody-coate ... Full text Link to item Cite

Statement by the Executive Committee

Journal Article The Journal of Allergy and Clinical Immunology · January 1, 1978 Full text Cite

Abnormalities of leukotaxis in atopic dermatitis.

Journal Article J Allergy Clin Immunol · August 1977 Leukocyte chemotaxis studies were performed in 14 patients with atopic dermatitis. Monocyte chemotactic responsiveness (MCR), polymorphonuclear leukocyte (PMN) chemotactic responsiveness (PCR), and patient serum inhibition of normal monocyte chemotaxis wer ... Full text Link to item Cite

Persistent and fatal central-nervous-system ECHOvirus infections in patients with agammaglobulinemia.

Journal Article N Engl J Med · June 30, 1977 We observed persistent ECHOvirus infection of the central nervous system, as defined by continued presence of isolatable virus in cerebrospinal fluid, in five patients with agammaglobulinemia. The immunologic deficit in each was characterized by absence of ... Full text Link to item Cite

HLA antigens in primary immunodeficiency diseases.

Journal Article Clin Immunol Immunopathol · May 1977 Full text Link to item Cite

Immunoreconstitution.

Journal Article Pediatr Clin North Am · May 1977 Full text Link to item Cite

Lymphocyte responses to purified ragweed allergens in vitro. I. Proliferative responses in normal, newborn, agammaglobulinemic, and atopic subjects.

Journal Article J Allergy Clin Immunol · January 1977 To evaluate cell-mediated immune responsiveness to pollen allergens in atopic subjects, we studied the deoxyribonucleic acid (DNA) synthetic responses of their cultured lymphocytes to purified ragweek antigens E, K, and Ra-3. Since lymphocytes from some hi ... Full text Link to item Cite

Severe combined immunodeficiency with leukopenia (reticular dysgenesis) in siblings: immunologic and histopathologic findings.

Journal Article J Pediatr · September 1976 The hematologic and histologic features of two, nontwin, male siblings with severe combined immunodeficiency and variable granulocytopenia are compared to the four previously reported cases of reticular dysgenesis. These sibs died at 50 and 3 days of age, ... Full text Link to item Cite

Heterogeneity of lymphocyte subpopulations in severe combined immunodeficiency. Evidence against a stem cell defect.

Journal Article J Clin Invest · July 1976 Surface markers typical of T and B lymphocytes were present on varying proportions of peripheral blood lymphocytes from three infants with severe combined immunodeficiency disease. Despite this, functions mediated by T and B cells were either absent or ver ... Full text Link to item Cite

Correction of severe combined immunodeficiency by fetal liver cells.

Journal Article N Engl J Med · May 13, 1976 As an alternative to bone-marrow transplantation, two infants with severe combined immunodeficiency who had no histocompatible donors were given intraperitoneal infusions of fresh liver cells from fetuses of eight and nine to 10 weeks. Transient graft-vers ... Full text Link to item Cite

Lymphocyte responses to antigen E in normal and in treated and untreated ragweed sensitive subjects

Journal Article Journal of Allergy and Clinical Immunology · January 1, 1976 Cite

Depression of cell-mediated immunity in atopic eczema.

Journal Article J Allergy Clin Immunol · November 1975 Prompted by recent observations that the thymus exerts an important regulatory influence over IgE antibody production in lower species, we conducted studies of immune function in 21 patients with atopic eczema to seek evidence for a similar relation in man ... Full text Link to item Cite

Enhanced bactericidal activity of phagocytes from patients with chronic granulomatous disease in the presence of sulphisoxazole.

Journal Article Lancet · April 12, 1975 The decrease in the frequency and severity of bacterial infections in four of five children with chronic granulomatous disease (C.G.D.) on long-term sulphonamide therapy was out of proportion to demonstrable direct antibacterial effects of the drug. In an ... Full text Link to item Cite

Combined immunodeficiency disease associated with adenosine deaminase deficiency. Report on a workshop held in Albany, New York, October 1, 1973.

Journal Article J Pediatr · February 1975 Fifty-five children with CID and known ADA status were studies at a workshop held in Albany, New York. Erythrocyte ADA determinations were performed in 22 of the 55 patients, 13 of whom were ADA negative. The ADA defect appears to be transmitted as an auto ... Full text Link to item Cite

Plasma therapy in immunodeficiency diseases.

Journal Article Birth Defects Orig Artic Ser · 1975 Link to item Cite

Serum IgD and IgE concentrations in immunodeficiency diseases.

Journal Article J Clin Invest · January 1975 Concentrations of IgD and IgE were measured in sera from 165 patients with well-defined immunodeficiency in an effort to find information possibly relevant to the roles of antibodies of these classes in host defense. Values for both immunoglobulins were ge ... Full text Link to item Cite

Bone marrow and thymus transplantation in ataxia-telangiectasia.

Journal Article Birth Defects Orig Artic Ser · 1975 Serum IgA concentrations were found to be normal in a boy with ataxia-telangiectasia and selective IgA deficiency several months after an infusion of bone marrow cells from an HL-A and MLR compatible normal sib. In addition, transient improvements were not ... Link to item Cite

Clinical and immunologic features of selective IgA deficiency.

Journal Article Birth Defects Orig Artic Ser · 1975 Selective absence of serum and secretory IgA is probably the most common form of human immunodeficiency. High frequencies of recurrent sinusitis, otitis media, pneumonia, and atopy were noted among a group of 75 such patients, all but 4 of whom were Caucas ... Link to item Cite

Precipitins to Candida albicans in chronic mucocutaneous candidiasis studied by crossed immunoelectrophoresis with intermediate gel. Correlation with clinical and immunological findings.

Journal Article Clin Exp Immunol · July 1974 The precipitating antibodies in the sera of fifteen patients with chronic mucocutaneous candidiasis were examined by crossed immunoelectrophoresis with intermediate gel. The method permitted identification and quantitation of precipitins against thirty-fou ... Link to item Cite

STUDIES OF CELL-MEDIATED IMMUNE FUNCTION IN ATOPIC ECZEMA

Conference JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY · 1974 Cite

Membrane receptors and in vitro responsiveness of lymphocytes in immunodeficiency

Conference Journal of Allergy and Clinical Immunology · February 1973 Full text Cite

Plasma therapy in immunodeficiency diseases.

Journal Article Am J Dis Child · September 1972 Full text Link to item Cite

Extreme hyperimmunoglobulinemia E and undue susceptibility to infection.

Journal Article Pediatrics · January 1972 Featured Publication Link to item Cite

Lymphopenic immunologic deficiency in identical twins: lymphocyte allografting and graft-versus-host disease following treatment with albumin-gradient-separated paternal bone marrow cells.

Journal Article Clin Exp Immunol · September 1971 The clinical, immunologic and pathologic features of the first recorded examples of lymphopenic immunologic deficiency in twins are presented. Eleven-month-old male identical twin infants were found to be severely lymphopenic and lacked demonstrable cell-m ... Link to item Cite

Serum immunogbulin cocentrations during normal pregnancy.

Journal Article Am J Obstet Gynecol · April 1, 1971 Full text Link to item Cite

HUMAN ENHANCING ANTIBODIES IN-VITRO STUDIES

Conference FEDERATION PROCEEDINGS · 1971 Cite

Correlation of milk precipitins with IgA deficiency.

Journal Article N Engl J Med · August 28, 1969 Full text Link to item Cite

Defective cellular immunity associated with chronic mucocutaneous moniliasis and recurrent staphylococcal botryomycosis: immunological reconstitution by allogeneic bone marrow.

Journal Article Clin Exp Immunol · February 1968 Immunological studies were conducted on a young girl with chronic muco-cutaneous moniliasis and staphylococcal botryomycosis. A cellular immune defect was demonstrated in three ways: (1) delayed hypersensitivity reactions could not be elicited with a stand ... Link to item Cite

STUDIES ON DEFECT IN SEPTIC GRANULOMATOSIS

Conference SOUTHERN MEDICAL JOURNAL · 1967 Cite

Reactivity of human IgG antibodies in primate and guinea pig passive anaphylaxis

Journal Article International Archives of Allergy and Immunology · January 1, 1966 Human sera containing precipitins to cow’s milk proteins or to tetanus toxoid failed to sensitize nonhuman primates for cutaneous or systemic anaphylaxis. Human reaginic serum, tested in the same experimental animals, successfully sensitized nonhuman prima ... Full text Cite

The use of nonhuman primates for studies of reagin

Journal Article Journal of Allergy · January 1, 1965 The work of Layton6-11 demonstrating passive cutaneous anaphylaxis (PCA) in nonhuman primates with human atopic serum has been confirmed and expanded. The reaction appears to be a measure of reaginic activity; the sera from untreated atopic individuals uti ... Full text Cite

USE OF NON-HUMAN PRIMATES FOR STUDIES OF REAGIN

Conference FEDERATION PROCEEDINGS · 1964 Cite