Scholars@Duke
Mary Louise Markert

Mary Louise Markert

Professor Emeritus of Pediatrics
Pediatrics, Allergy and Immunology
marke001@mc.duke.edu
Box 3068 Med Ctr, Durham, NC 27710
Rm 101 Research Park 4, Research Dr., Durham, NC 27710

Scholarly Works - Journal articles

Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy.

Journal article Genet Med · September 2023 PURPOSE: Mendelian etiologies for acute encephalopathies in previously healthy children are poorly understood, with the exception of RAN binding protein 2 (RANBP2)-associated acute necrotizing encephalopathy subtype 1 (ANE1). We provide clinical, genetic, ... Full text Link to item Cite

Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development.

Journal article J Clin Immunol · February 2023 Current practices vary widely regarding the immunological work-up and management of patients affected with defects in thymic development (DTD), which include chromosome 22q11.2 microdeletion syndrome (22q11.2del) and other causes of DiGeorge syndrome (DGS) ... Full text Link to item Cite

Case Report: Nontuberculous mycobacterial infections in children with complete DiGeorge anomaly.

Journal article Front Immunol · 2023 Children with complete DiGeorge anomaly (cDGA) have congenital athymia, resulting in severe T cell immunodeficiency and susceptibility to a broad range of infections. We report the clinical course, immunologic phenotypes, treatment, and outcomes of three c ... Full text Link to item Cite

Mesenchymal cell replacement corrects thymic hypoplasia in murine models of 22q11.2 deletion syndrome.

Journal article J Clin Invest · November 15, 2022 22q11.2 deletion syndrome (22q11.2DS) is the most common human chromosomal microdeletion, causing developmentally linked congenital malformations, thymic hypoplasia, hypoparathyroidism, and/or cardiac defects. Thymic hypoplasia leads to T cell lymphopenia, ... Full text Link to item Cite

Introducing thymus for promoting transplantation tolerance.

Journal article J Allergy Clin Immunol · September 2022 Establishing tolerance remains a central, if elusive, goal of transplantation. In solid-organ transplantation, one strategy for inducing tolerance has been cotransplantation of various forms of thymic tissue along with another organ. As one of the biologic ... Full text Link to item Cite

Experience with cultured thymus tissue in 105 children.

Journal article J Allergy Clin Immunol · February 2022 BACKGROUND: Currently, there are no approved therapies to treat congenital athymia, a condition of immune deficiency resulting in high early mortality due to infection and immune dysregulation. Multiple syndromic conditions, such as complete DiGeorge syndr ... Full text Link to item Cite

Care of Children with DiGeorge Before and After Cultured Thymus Tissue Implantation.

Journal article J Clin Immunol · July 2021 BACKGROUND: Children with complete DiGeorge anomaly (cDGA) have congenital athymia plus a myriad of other challenging clinical conditions. The term cDGA encompasses children with congenital athymia secondary to 22q11.2DS, CHARGE syndrome (coloboma, heart d ... Full text Link to item Cite

Diagnostic assay to assist clinical decisions for unclassified severe combined immune deficiency.

Journal article Blood Adv · June 23, 2020 3D organoid T-cell differentiation from a few hundred peripheral blood CD34+ cells was successfully achieved. 3D organoid T-cell differentiation could help physicians distinguish intrinsic from extrinsic defects underlying a clinical SCID phenotype. ... Full text Link to item Cite

Artificial thymic organoids represent a reliable tool to study T-cell differentiation in patients with severe T-cell lymphopenia.

Journal article Blood Adv · June 23, 2020 The study of early T-cell development in humans is challenging because of limited availability of thymic samples and the limitations of in vitro T-cell differentiation assays. We used an artificial thymic organoid (ATO) platform generated by aggregating a ... Full text Link to item Cite

Cultured thymus tissue implantation promotes donor-specific tolerance to allogeneic heart transplants.

Journal article JCI Insight · June 4, 2020 Eighty-six infants born without a thymus have been treated with allogeneic cultured thymus tissue implantation (CTTI). These infants, who lack T cells and are profoundly immunodeficient at birth, after CTTI from an unmatched donor develop T cells similar t ... Full text Open Access Link to item Cite

Histopathologic assessment of cultured human thymus.

Journal article PLoS One · 2020 The maintenance and propagation of complex mixtures of cells in vitro in the form of native organs or engineered organoids has contributed to understanding mechanisms of cell and organ development and function which can be translated into therapeutic benef ... Full text Open Access Link to item Cite

FOXN1 compound heterozygous mutations cause selective thymic hypoplasia in humans.

Journal article J Clin Invest · November 1, 2019 We report on 2 patients with compound heterozygous mutations in forkhead box N1 (FOXN1), a transcription factor essential for thymic epithelial cell (TEC) differentiation. TECs are critical for T cell development. Both patients had a presentation consisten ... Full text Link to item Cite

Newborn Screening for Severe Combined Immunodeficiency and T-cell Lymphopenia in California, 2010-2017.

Journal article Pediatrics · February 2019 OBJECTIVES: Newborn screening for severe combined immunodeficiency (SCID) was instituted in California in 2010. In the ensuing 6.5 years, 3 252 156 infants in the state had DNA from dried blood spots assayed for T-cell receptor excision circles (TRECs). Ab ... Full text Link to item Cite

Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder.

Journal article Hum Mol Genet · July 15, 2018 The 17 genes of the T-box family are transcriptional regulators that are involved in all stages of embryonic development, including craniofacial, brain, heart, skeleton and immune system. Malformation syndromes have been linked to many of the T-box genes. ... Full text Link to item Cite

Thymus transplantation for complete DiGeorge syndrome: European experience.

Journal article J Allergy Clin Immunol · December 2017 BACKGROUND: Thymus transplantation is a promising strategy for the treatment of athymic complete DiGeorge syndrome (cDGS). METHODS: Twelve patients with cDGS underwent transplantation with allogeneic cultured thymus. OBJECTIVE: We sought to confirm and ext ... Full text Link to item Cite

Disseminated Mycobacterium kansasii disease in complete DiGeorge syndrome.

Journal article J Clin Immunol · July 2015 PURPOSE: Complete DiGeorge syndrome (cDGS) describes a subset of patients with DiGeorge syndrome that have thymic aplasia, and thus are at risk for severe opportunistic infections. Patients with cDGS and mycobacterial infection have not previously been des ... Full text Link to item Cite

Complete thymectomy in adult rats with non-invasive endotracheal intubation.

Journal article J Vis Exp · December 29, 2014 Thymectomy in neonatal rodents is an established and reliable procedure for immunological studies. However, in adult rats, complications of hemorrhage and pneumothorax from pleural disruption can result in a significant mortality rate. This protocol is a s ... Full text Link to item Cite

Clinical course and outcome predictors of critically ill infants with complete DiGeorge anomaly following thymus transplantation.

Journal article Pediatr Crit Care Med · September 2014 OBJECTIVES: To identify risk factors for PICU admission and mortality of infants with complete DiGeorge anomaly treated with thymus transplantation. We hypothesized that age at transplantation and the presence of congenital heart disease would be risk fact ... Full text Link to item Cite

Thymus Transplantation

Journal article · August 12, 2014 Thymus transplantation is an experimental procedure in which allogeneic, cultured, postnatal thymus tissue is transplanted into an athymic infant. Almost all transplant recipients are infants with complete DiGeorge anomaly. The donor thymus is obtained as ... Full text Cite

Human syndromes of immunodeficiency and dysregulation are characterized by distinct defects in T-cell receptor repertoire development.

Journal article J Allergy Clin Immunol · April 2014 BACKGROUND: Human immunodeficiencies characterized by hypomorphic mutations in critical developmental and signaling pathway genes allow for the dissection of the role of these genes in the development of the T-cell receptor (TCR) repertoire and the correla ... Full text Link to item Cite

Quantification of total T-cell receptor diversity by flow cytometry and spectratyping.

Journal article BMC Immunol · August 6, 2013 BACKGROUND: T-cell receptor diversity correlates with immune competency and is of particular interest in patients undergoing immune reconstitution. Spectratyping generates data about T-cell receptor CDR3 length distribution for each BV gene but is technica ... Full text Link to item 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

Human FOXN1-deficiency is associated with αβ double-negative and FoxP3+ T-cell expansions that are distinctly modulated upon thymic transplantation.

Journal article PLoS One · 2012 Forkhead box N1 (FOXN1) is a transcription factor crucial for thymic epithelium development and prevention of its involution. Investigation of a patient with a rare homozygous FOXN1 mutation (R255X), leading to alopecia universalis and thymus aplasia, unex ... Full text Link to item Cite

Thymic microenvironment reconstitution after postnatal human thymus transplantation.

Journal article Clin Immunol · September 2011 Featured Publication A functional thymus develops after cultured thymus tissue is transplanted into subjects with complete DiGeorge anomaly. To gain insight into how the process occurs, 7 post-transplantation thymus biopsy tissues were evaluated. In 5 of 7 biopsies, the thymus ... Full text Link to item Cite

Successful extracorporeal membrane oxygenation for respiratory failure in an infant with DiGeorge anomaly, following thymus transplantation.

Journal article Respir Care · June 2011 We report the first successful use of venovenous extracorporeal membrane oxygenation (ECMO) for refractory respiratory failure in an infant with DiGeorge anomaly, following thymus transplantation. A 23-month-old female with complete immune-incompetent DiGe ... Full text Link to item Cite

Induction of tolerance to parental parathyroid grafts using allogeneic thymus tissue in patients with DiGeorge anomaly.

Journal article J Allergy Clin Immunol · June 2011 Featured Publication DiGeorge anomaly can affect both thymic and parathyroid function. Although athymia is corrected by allogeneic thymus transplantation, treatment options for hypoparathyroidism have been unsatisfactory. Parathyroid transplantation offers the potential for de ... Full text Link to item Cite

First use of thymus transplantation therapy for FOXN1 deficiency (nude/SCID): a report of 2 cases.

Journal article Blood · January 13, 2011 Featured Publication FOXN1 deficiency is a primary immunodeficiency characterized by athymia, alopecia totalis, and nail dystrophy. Two infants with FOXN1 deficiency were transplanted with cultured postnatal thymus tissue. Subject 1 presented with disseminated Bacillus Calmett ... Full text Link to item Cite

Mechanisms of tolerance to parental parathyroid tissue when combined with human allogeneic thymus transplantation.

Journal article J Allergy Clin Immunol · October 2010 Featured Publication BACKGROUND: The induction of tolerance toward third-party solid organ grafts with allogeneic thymus tissue transplantation has not been previously demonstrated in human subjects. OBJECTIVE: Infants with complete DiGeorge anomaly (having neither thymus nor ... Full text Link to item Cite

Thymus transplantation.

Journal article Clin Immunol · May 2010 Featured Publication Thymus transplantation is a promising investigational therapy for infants born with no thymus. Because of the athymia, these infants lack T cell development and have a severe primary immunodeficiency. Although thymic hypoplasia or aplasia is characteristic ... Full text Link to item Cite

Comèl-Netherton syndrome defined as primary immunodeficiency.

Journal article J Allergy Clin Immunol · September 2009 BACKGROUND: Mutations in serine protease inhibitor Kazal-type 5 (SPINK5), encoding the serine protease inhibitor lympho-epithelial Kazal-type 5 related inhibitor (LEKTI), cause Comèl-Netherton syndrome, an autosomal-recessive disease characterized by conge ... Full text Link to item Cite

The dynamics of T-cell receptor repertoire diversity following thymus transplantation for DiGeorge anomaly.

Journal article PLoS Comput Biol · June 2009 T cell populations are regulated both by signals specific to the T-cell receptor (TCR) and by signals and resources, such as cytokines and space, that act independently of TCR specificity. Although it has been demonstrated that disruption of either of thes ... Full text Link to item Cite

Thymus transplantation in complete DiGeorge anomaly.

Journal article Immunol Res · 2009 Complete DiGeorge anomaly is characterized by athymia, congenital heart disease, and hypoparathyroidism. This congenital disease is fatal by age 2 years unless immune reconstitution is successful. There are multiple underlying syndromes associated with com ... Full text Link to item Cite

Characterization of cultured thymus tissue used for transplantation with emphasis on promiscuous expression of thyroid tissue-specific genes.

Journal article Immunol Res · 2009 Autoimmune thyroid disease occurs in some complete DiGeorge anomaly patients after thymus transplantation. This study was designed to assess the effect of culture of thymus tissue on the expression of genes involved in the development of autoimmunity. The ... Full text Link to item Cite

Thymus transplantation

Journal article · December 1, 2008 Thymus transplantation was first attempted in the 1960s and 1970s using fetal thymus tissue [1, 2]. The results overall were disappointing [3-6]. In part the poor outcomes related to the lack of reagents needed to characterize and identify the patients int ... Full text Cite

Thymic reconstitution

Journal article · December 1, 2008 Full text Cite

Immunological reconstitution following thymic transplantation of a nude/SCID patient

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

Factors affecting success of thymus transplantation for complete DiGeorge anomaly.

Journal article Am J Transplant · August 2008 Thymus transplantation shows promise for the treatment of athymia in complete DiGeorge anomaly. This report reviews the effects of dose of thymus tissue, ABO compatibility, HLA matching, culture conditions, age of donor and immunosuppression of recipient o ... Full text Link to item Cite

Use of allograft biopsies to assess thymopoiesis after thymus transplantation.

Journal article J Immunol · May 1, 2008 Featured Publication Thymus allograft biopsies were performed in athymic infants with complete DiGeorge anomaly after thymus transplantation to assess whether the thymus allograft tissue was able to support thymopoiesis. Forty-four consecutive infants were treated with postnat ... Full text Link to item Cite

Treatment of infants with complete DiGeorge anomaly.

Journal article J Allergy Clin Immunol · April 2008 Full text Link to item Cite

The cutaneous manifestations of atypical complete DiGeorge syndrome: a histopathologic and immunohistochemical study.

Journal article J Cutan Pathol · April 2008 Featured Publication DiGeorge syndrome is a congenital anomaly with a constellation of findings that includes thymic hypoplasia. Only a small subset of patients with DiGeorge syndrome has complete athymia, classified as complete DiGeorge anomaly; one third of these patients sh ... Full text Link to item Cite

Long-term tolerance to allogeneic thymus transplants in complete DiGeorge anomaly.

Journal article Clin Immunol · March 2008 Featured Publication Thymus transplantation in subjects with complete DiGeorge anomaly using postnatal allogeneic HLA-nonmatched cultured thymus tissue provides immunoreconstitution. Tolerance of the newly developed T cells toward the donor thymus has not previously been studi ... Full text Link to item Cite

Human T cell reconstitution in DiGeorge syndrome and HIV-1 infection.

Journal article Semin Immunol · October 2007 The thymus is essential for proper development and maintenance of a broad T cell repertoire capable of recognizing a wide-range of foreign antigens. Recent advances in multicolor flow cytometry, non-invasive imaging techniques, and molecular assessments of ... Full text Link to item Cite

Review of 54 patients with complete DiGeorge anomaly enrolled in protocols for thymus transplantation: outcome of 44 consecutive transplants.

Journal article Blood · May 15, 2007 Featured Publication The purpose of this study was to characterize a large group of infants with complete DiGeorge anomaly and to evaluate the ability of thymus transplantation to reconstitute immune function in these infants. DiGeorge anomaly is characterized by varying defec ... Full text Link to item Cite

SpA: web-accessible spectratype analysis: data management, statistical analysis and visualization.

Journal article Bioinformatics · September 15, 2005 SUMMARY: SpA is a web-accessible system for the management, visualization and statistical analysis of T-cell receptor spectratype data. Users upload data from their spectratype analyzers to SpA, which saves the raw data and user-defined supplementary covar ... Full text Link to item Cite

Statistical analysis of antigen receptor spectratype data.

Journal article Bioinformatics · August 15, 2005 MOTIVATION: The effectiveness of vertebrate adaptive immunity depends crucially on the establishment and maintenance of extreme diversity in the antigen receptor repertoire. Spectratype analysis is a method used in clinical and basic immunological settings ... Full text Link to item Cite

Thymic transplantation for complete DiGeorge syndrome: medical and surgical considerations.

Journal article J Pediatr Surg · November 2004 BACKGROUND/PURPOSE: Complete DiGeorge syndrome results in the absence of functional T cells. Our program supports the transplantation of allogeneic thymic tissue in infants with DiGeorge syndrome to reconstitute immune function. This study reviews the mult ... Full text Link to item Cite

Postnatal thymus transplantation with immunosuppression as treatment for DiGeorge syndrome.

Journal article Blood · October 15, 2004 Featured Publication Complete DiGeorge syndrome is a fatal congenital disorder characterized by athymia, hypoparathyroidism, and heart defects. Less than half of patients are 22q11 hemizygous. The goal of this study was to assess if immune suppression followed by postnatal thy ... 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 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

Corticosteroids regulate epithelial cell differentiation and Hassall body formation in the human thymus.

Journal article J Immunol · January 1, 2004 The presence of characteristic epithelial swirls called Hassall bodies within the human thymic medulla has been used as an indicator of ongoing or recent thymopoiesis. We present a case where Hassall bodies were present in the absence of current or past th ... Full text Link to item Cite

Thymus transplantation in complete DiGeorge syndrome: immunologic and safety evaluations in 12 patients.

Journal article Blood · August 1, 2003 Featured Publication Complete DiGeorge syndrome is a fatal condition in which infants have no detectable thymus function. The optimal treatment for the immune deficiency of complete DiGeorge syndrome has not been determined. Safety and efficacy of thymus transplantation were e ... Full text Link to item Cite

Thymic transplantation in complete DiGeorge syndrome.

Journal article CLINICAL IMMUNOLOGY · June 1, 2002 Link to item Cite

Thymopoiesis in HIV-infected adults after highly active antiretroviral therapy.

Journal article AIDS Res Hum Retroviruses · November 20, 2001 Featured Publication The thymus of HIV-seropositive patients can enlarge as CD4+ T cell counts increase on highly active anti-retroviral therapy (HAART). This may indicate development of new T cells or represent mature peripheral T cells recirculating to the thymus. To define ... Full text Link to item Cite

Effect of highly active antiretroviral therapy and thymic transplantation on immunoreconstitution in HIV infection.

Journal article AIDS Res Hum Retroviruses · March 20, 2000 The purpose of this study was to determine whether thymic transplantation in addition to highly active antiretroviral therapy (HAART) will restore T cell function in HIV infection. Eight treatment-naive HIV-infected patients with CD4+ T cell counts of 200- ... Full text Link to item Cite

The role of the thymus in immune reconstitution in aging, bone marrow transplantation, and HIV-1 infection.

Journal article Annu Rev Immunol · 2000 The human thymus is a complex chimeric organ comprised of central (thymic epithelial space) and peripheral (perivascular space) components that functions well into adult life to produce naive T lymphocytes. Recent advances in identifying thymic emigrants a ... 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

Possible extrathymic development of nonfunctional T cells in a patient with complete DiGeorge syndrome.

Journal article Clin Immunol · May 1999 Featured Publication Complete DiGeorge syndrome is characterized by the clinical triad of cardiac malformation, hypocalcemia, and T cell immunodeficiency due to congenital athymia. We describe an infant with complete DiGeorge syndrome who at presentation had no circulating T c ... 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 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

Complete DiGeorge syndrome: persistence of profound immunodeficiency.

Journal article J Pediatr · January 1998 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

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

Journal article J Pediatr · March 1997 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 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

Mutations in purine nucleoside phosphorylase deficiency.

Journal article Hum Mutat · 1997 Purine nucleoside phosphorylase deficiency is an inherited disease of purine metabolism characterized clinically as combined immunodeficiency. The molecular defects have been published for 4 different alleles in 3 patients. We report four new mutations inc ... Full text Link to item Cite

The human thymic microenvironment during organ culture.

Journal article Clin Immunol Immunopathol · January 1997 Cultured human thymic tissue has been transplanted into many patients with T cell dysfunction; however, little is known about the effect of in vitro culture on thymic tissue. Human postnatal thymic organ cultures were established in vitro to study the grow ... 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

Thymic transplantation for digeorge syndrome

Journal article FASEB Journal · December 1, 1996 Infants with complete DiGeorge syndrome have thymic aplasia with no measurable T cell function. This report describes restoration of T cell function and TCR repertoire during a 30 month period after thymic transplantation in a patient with complete DiGeorg ... Cite

Antibodies against retroviral proteins and nuclear antigens in a subset of idiopathic CD4+ T lymphocytopenia patients.

Journal article AIDS Res Hum Retroviruses · July 1, 1996 Idiopathic CD4+ T lymphocytopenia (ICL) is an immunodeficiency syndrome characterized by severe depletion of CD4+ T lymphocytes, but in which human immunodeficiency virus cannot be detected. Peripheral blood mononuclear cells (BPMCs) from an ICL patient we ... Full text Link to item Cite

Thymic transplantation for digeorge syndrome.

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

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

Journal article Science · November 3, 1995 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

Correction of proliferative responses in purine nucleoside phosphorylase (PNP)-deficient T lymphocytes by retroviral-mediated PNP gene transfer and expression.

Journal article J Immunol · March 15, 1995 Purine nucleoside phosphorylase (PNP; EC 2.4.2.1) deficiency is associated with a fatal T cell immunodeficiency in children, a candidate condition for gene therapy by introduction of functional PNP sequences into either T lymphocytes or more primitive prog ... Link to item Cite

IMMUNOBIOLOGY OF HUMAN SEVERE COMBINED IMMUNODEFICIENCY

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

Molecular basis of adenosine deaminase deficiency.

Journal article Immunodeficiency · 1994 Adenosine deaminase (ADA) deficiency is an autosomal recessive disorder resulting in immunodeficiency. Since the cDNA for ADA was cloned approximately 10 years ago, investigators have determined the molecular basis for disease in many patients with ADA def ... Link to item 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

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

Molecular analysis of mutations in a patient with purine nucleoside phosphorylase deficiency.

Journal article Am J Hum Genet · October 1992 Purine nucleoside phosphorylase (PNP) deficiency is an inherited autosomal recessive disorder resulting in severe combined immunodeficiency. The purpose of this study was to determine the molecular defects responsible for PNP deficiency in one such patient ... Link to item Cite

Exon skipping in purine nucleoside phosphorylase mRNA processing leading to severe immunodeficiency.

Journal article J Biol Chem · April 15, 1992 We report a defect in splicing of precursor messenger RNA (pre-mRNA) resulting from a naturally occurring mutation of the gene encoding purine nucleoside phosphorylase (PNP) in a patient with PNP-deficient severe combined immunodeficiency. This defects res ... Link to item Cite

Molecular biology and allergy: current status and future prospects

Journal article Pediatric Allergy and Immunology · January 1, 1992 Techniques of molecular biology are now being applied to all fields of clinieal medicine. Molecular biology shows particular promise in the field of allergy. Already, cloning studies are defining the protein sequence of many allergens and allowing recombin ... Full text Cite

Purine nucleoside phosphorylase deficiency.

Journal article Immunodefic Rev · 1991 Purine nucleoside phosphorylase (PNP) deficiency is a rare inherited disease accounting for approximately 4% of patients with severe combined immunodeficiency. Thirty-three patients have been reported. PNP-deficient patients suffer from recurrent infection ... Link to item Cite

A high proportion of ADA point mutations associated with a specific alanine-to-valine substitution.

Journal article Am J Hum Genet · September 1989 In 15%-20% of children with severe combined immunodeficiency (SCID), the underlying defect is adenosine deaminase (ADA) deficiency. The overall goal of our research has been to identify the precise molecular defects in patients with ADA-deficient SCID. In ... Link to item Cite

Adenosine deaminase (ADA) deficiency due to deletion of the ADA gene promoter and first exon by homologous recombination between two Alu elements.

Journal article J Clin Invest · May 1988 In 15-20% of children with severe combined immunodeficiency (SCID), the underlying defect is adenosine deaminase (ADA) deficiency. The goal of this study was to determine the precise molecular defect in a patient with ADA-deficient SCID whom we previously ... Full text 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

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

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

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

Human B cell alloantigens: expression of MB and MT determinants.

Journal article J Immunol · May 1982 Four HLA-DR-homozygous cell lines were examined in detail to compare alpha and beta subunits precipitated by chimpanzee antisera and alloantisera directed against HLA-DR, MB, or MT determinants. For the HLA-DR5-homozygous cell line Sweig, chimpanzee antise ... Link to item Cite

Human B cell alloantigens; alpha subunit variability.

Journal article J Immunol · May 1982 Human B cell alloantigens were studied by two-dimensional gel electrophoresis. The heavy (alpha) and light (beta) chains precipitated by xenoantisera were compared on B lymphoblastoid cell lines of different HLA-DR types. In accordance with the results of ... Link to item Cite

Polymorphism of human B-cell alloantigens: evidence for three loci within the HLA system.

Journal article Proc Natl Acad Sci U S A · October 1980 The B-cell alloantigens of an HLA-DR3-homozygous, MB2-homozygous, MT2-positive lymphoblastoid cell line were studied by two-dimensional gel electrophoresis. Analysis of gel patterns suggested assignment of the HLA-DR3 determinant to the larger (35,000-dalt ... Full text Link to item Cite