Immunologic Deficiency Syndromes

• 

  Subject Areas on Research

  • A high proportion of ADA point mutations associated with a specific alanine-to-valine substitution. 
  • A historical review of bone marrow transplantation for immunodeficiencies. 
  • A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency. 
  • A seven-month-old infant with fever and neutrophilic leukocytosis. 
  • A spontaneous deletion within the desmoglein 3 extracellular domain of mice results in hypomorphic protein expression, immunodeficiency, and a wasting disease phenotype. 
  • A successful unrelated peripheral blood stem cell transplantation with reduced intensity-conditioning regimen in a patient with late-onset purine nucleoside phosphorylase deficiency. 
  • ADA deficiency treatment. 
  • Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors. 
  • Abnormalities in the regulation of human IgE synthesis. 
  • Abnormalities in the regulation of human IgE synthesis. 
  • Accelerated development of immunity following transplantation of maternal marrow stem cells into infants with severe combined immunodeficiency and transplacentally acquired lymphoid chimerism. 
  • Adenosine deaminase (ADA) deficiency due to deletion of the ADA gene promoter and first exon by homologous recombination between two Alu elements. 
  • Adenosine deaminase deficiency with late onset of recurrent infections: response to treatment with polyethylene glycol-modified adenosine deaminase. 
  • Advances in the correction of immunodeficiency by bone marrow transplantation. 
  • Advances in the diagnosis and treatment of primary immunodeficiency diseases. 
  • Allogeneic hematopoietic cell transplantation for primary immune deficiency diseases: current status and critical needs. 
  • Allogeneic marrow transplantation. 
  • Alpha-fetoprotein levels in immunodeficiency. 
  • Altered lymphopoiesis and immunodeficiency in miR-142 null mice. 
  • Antibody-dependent cellular cytotoxicity in primary immunodeficiency diseases and with normal leukocyte subpopulations. Importance of the type of target. 
  • Appearance of multiple benign paraproteins during early engraftment of soy lectin T cell-depleted haploidentical bone marrow cells in severe combined immunodeficiency. 
  • Authors' reply. 
  • Autoimmunity in immunodeficiency. 
  • B lymphocytes: how they develop and function. 
  • Balamuthia mandrillaris meningoencephalitis in an immunocompromised patient. Case report. 
  • Biological activity of complement in vivo. Role of C5 in the accumulation of polymorphonuclear leukocytes in inflammatory exudates. 
  • Bone marrow transplantation in the perinatal period. 
  • Brain migration disorder and T-cell activation deficiency associated with abnormal signaling through TCR/CD3 complex and hyperactivity of Fyn tyrosine kinase. 
  • Breakthroughs in the understanding and therapy of primary immunodeficiency. 
  • Cancer Therapy-associated Lymphoproliferative Disorders: An Under-recognized Type of Immunodeficiency-associated Lymphoproliferative Disorder. 
  • Cancer in primary immunodeficiency diseases: Cancer incidence in the United States Immune Deficiency Network Registry. 
  • Candida meningitis in two children with severe combined immunodeficiency. 
  • Cellular events in the differentiation of antibody-secreting cells. 
  • Cerebral phaeohyphomycosis in an immunodeficient child treated medically with combination antifungal therapy. 
  • Cerebral sinus thrombosis in a patient with humoral immunodeficiency on intravenous immunoglobulin therapy: a case report. 
  • Characterization of a monoclonal antibody, RTE-21, that binds to keratohyalin granule-associated proteins in epithelial cells of human skin and thymus. 
  • Chronic mucocutaneous candidiasis. Immunologic studies of three generations of a single family. 
  • Chronic norovirus infection in primary immune deficiency disorders: an international case series. 
  • Clinical and imaging considerations in primary immunodeficiency disorders: an update. 
  • Clinical and immunologic features of selective IgA deficiency. 
  • Clinical application of whole-genome sequencing in patients with primary immunodeficiency. 
  • Clinically focused exome sequencing identifies an homozygous mutation that confers DOCK8 deficiency. 
  • Clonal expansion of CD8+ BV8 T lymphocytes in bone marrow characterizes thymoma-associated B lymphopenia. 
  • Cloning of B cells from autoimmune MRL-lpr/lpr and MRL.xid mice. 
  • Cloning of murine splenic T lymphocytes and natural killer (NK) cells on filter paper discs: detection of a novel NK/T phenotype. 
  • Combined immunodeficiency disease associated with adenosine deaminase deficiency. Report on a workshop held in Albany, New York, October 1, 1973. 
  • Combined immunodeficiency due to the selective absence of CD4 inducer T lymphocytes. 
  • Combined immunodeficiency in the United States and Kuwait: Comparison of patients' characteristics and molecular diagnosis. 
  • Comparison of red cell transfusion and polyethylene glycol-modified adenosine deaminase therapy in an adenosine deaminase-deficient child: measurement of erythrocyte deoxyadenosine triphosphate as a useful tool. 
  • 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. 
  • Comèl-Netherton syndrome defined as primary immunodeficiency. 
  • Congenital hemophagocytic lymphohistiocytosis presenting as thrombocytopenia in a newborn. 
  • Correction of purine nucleoside phosphorylase deficiency by transplantation of allogeneic bone marrow from a sibling. 
  • Correction of severe combined immunodeficiency by fetal liver cells. 
  • Cutaneous complications of BCG vaccination in infants with immune disorders: two cases and a review of the literature. 
  • Cutaneous granulomas in children with combined immunodeficiency. 
  • Cytogenetic engineering in vivo: restoration of biologic complement activity to C5-deficient mice by intravenous inoculation of hybrid cells. 
  • DNA methyltransferase 3B mutations linked to the ICF syndrome cause dysregulation of lymphogenesis genes. 
  • Defective mononuclear leukocyte chemotaxis: a previously unrecognized immune dysfunction. Studies in a patient with chronic mucocutaneous candidiasis. 
  • Demonstration of abnormalities in expression of thymic epithelial surface antigens in severe cellular immunodeficiency diseases. 
  • Demonstration of abnormalities in expression of thymic epithelial surface antigens in severe cellular immunodeficiency diseases. 
  • Development of immunity in human severe primary T cell deficiency following haploidentical bone marrow stem cell transplantation. 
  • 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. 
  • Developmental immunology and the immunodeficiency diseases. 
  • Dextran sulfate sodium-induced colitis in immunodeficient rats. 
  • Diagnosis of deficiency of adenosine deaminase type 2 in adulthood. 
  • Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots. 
  • Disease Progression of WHIM Syndrome in an International Cohort of 66 Pediatric and Adult Patients. 
  • Disorders of leukocyte chemotaxis. 
  • Dominant-negative IKZF1 mutations cause a T, B, and myeloid cell combined immunodeficiency. 
  • Donor immune reconstitution after liver-small bowel transplantation for multiple intestinal atresia with immunodeficiency. 
  • Dyshematopoiesis in combined immune deficiency with congenital neutropenia. 
  • Early-onset monocyte-B-natural killer-dendritic cells' deficiency successfully treated with hematopoietic stem cell transplantation. 
  • Efficacy and tolerability of 16% subcutaneous immunoglobulin compared with 20% subcutaneous immunoglobulin in primary antibody deficiency. 
  • Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: the Primary Immune Deficiency Treatment Consortium experience. 
  • Ethical considerations of using a single minor donor for three bone marrow harvests for three HLA-matched siblings with primary immunodeficiency. 
  • Evaluation of lymphocyte differentiation in primary and secondary immunodeficiency diseases. 
  • Expanding the Spectrum of EBV-positive Marginal Zone Lymphomas: A Lesion Associated With Diverse Immunodeficiency Settings. 
  • Expression of Mls determinants in mice exhibiting the severe combined immunodeficiency (scid) mutation or X-linked immunodeficiency (xid) defect. 
  • Fatal cytomegalovirus bronchiolitis in a patient with Nezelof's syndrome. 
  • Fatal immunodeficiency in a patient with thymoma and Good's syndrome. 
  • Flebogamma(®) 5 % DIF Intravenous Immunoglobulin for Replacement Therapy in Children with Primary Immunodeficiency Diseases. 
  • G protein-coupled receptor kinase-3-deficient mice exhibit WHIM syndrome features and attenuated inflammatory responses. 
  • Genotype is an important determinant of phenotype in adenosine deaminase deficiency. 
  • Griscelli syndrome associated with hemophagocytic lymphohistiocytosis. 
  • Griscelli syndrome associated with hemophagocytic lymphohistiocytosis. 
  • HLA antigens in primary immunodeficiency diseases. 
  • Heart xenograft survival with chimeric pig donors and modest immune suppression. 
  • Hematopoietic Stem Cell Transplantation in ADA2 Deficiency: Early Restoration of ADA2 Enzyme Activity and Disease Relapse upon Drop of Donor Chimerism. 
  • Hematopoietic stem cell transplantation rescues the hematological, immunological, and vascular phenotype in DADA2. 
  • Heterogeneity of lymphocyte subpopulations in severe combined immunodeficiency. Evidence against a stem cell defect. 
  • Human adenosine deaminase 2 deficiency: A multi-faceted inborn error of immunity. 
  • Human syndromes of immunodeficiency and dysregulation are characterized by distinct defects in T-cell receptor repertoire development. 
  • Humoral Immune Reconstitution Kinetics after Allogeneic Hematopoietic Stem Cell Transplantation in Children: A Maturation Block of IgM Memory B Cells May Lead to Impaired Antibody Immune Reconstitution. 
  • Humoral immunodeficiency. 
  • ICON: the early diagnosis of congenital immunodeficiencies. 
  • Identification of a deletion in the adenosine deaminase gene in a child with severe combined immunodeficiency. 
  • Identification of a putative second T-cell receptor. 
  • Immune Gamma Globulin Therapeutic Indications in Immune Deficiency and Autoimmunity. 
  • Immune deficiency and expanded population of granular lymphocytes after bone marrow transplantation. 
  • Immune globulin subcutaneous, human - klhw 20% for primary humoral immunodeficiency: an open-label, Phase III study. 
  • Immune reconstitution syndrome associated with opportunistic mycoses. 
  • Immunodeficiency diseases. 
  • Immunodeficiency diseases. 
  • Immunodeficiency. 
  • Immunodeficiency. 
  • Immunodeficiency. 
  • Immunoglobulin prophylaxis in patients with antibody deficiency syndromes and anti-IgA antibodies. 
  • Immunoreconstitution. 
  • Immunosuppressive retroviral peptides: immunopathological implications for immunosuppressive influences of retroviral infections. 
  • Improving cellular therapy for primary immune deficiency diseases: recognition, diagnosis, and management. 
  • Individualization of gamma globulin dosage in patients with humoral immunodeficiency. 
  • Individualized immunoglobulin treatment in pediatric patients with primary humoral immunodeficiency disease. 
  • Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections. 
  • Inherited human complement C5 deficiency. Nonsense mutations in exons 1 (Gln1 to Stop) and 36 (Arg1458 to Stop) and compound heterozygosity in three African-American families. 
  • Instrinsic defect of the polymorphonuclear leucocyte resulting in impaired chemotaxis and phagocytosis. 
  • Irgm1 (LRG-47), a regulator of cell-autonomous immunity, does not localize to mycobacterial or listerial phagosomes in IFN-γ-induced mouse cells. 
  • Jakinibs for the treatment of immune dysregulation in patients with gain-of-function signal transducer and activator of transcription 1 (STAT1) or STAT3 mutations. 
  • Long term use of intravenous immune globulin in patients with primary immunodeficiency diseases: inadequacy of current dosage practices and approaches to the problem. 
  • Long-term survival and late deaths after hematopoietic cell transplantation for primary immunodeficiency diseases and inborn errors of metabolism. 
  • Lymphoproliferative disorders: CT findings in immunocompromised children. 
  • Membrane receptors and in vitro responsiveness of lymphocytes in human immunodeficiency. 
  • Modified MHC restriction of donor-origin T cells in humans with severe combined immunodeficiency transplanted with haploidentical bone marrow stem cells. 
  • Modified responses to recipient and donor B cells by genetically donor T cells from human haploidentical bone marrow chimeras. 
  • Molecular form of adenosine deaminase in severe combined immunodeficiency. 
  • Monoclonal immunoglobulin-secreting lymphoma in a patient with severe combined immunodeficiency disease. 
  • Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome. 
  • Multicenter crossover comparison of the safety and efficacy of Intraglobin-F with Gamimune-N, Sandoglobulin, and Gammagard in patients with primary immunodeficiency diseases. 
  • Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease. 
  • Natural killing in immunodeficient patients. 
  • Neisseria meningitidis and Neisseria gonorrhoeae bacteremia associated with C6, C7, or C8 deficiency. 
  • New developments in primary immunodeficiencies: Report on the 2006 CIS Primary Immunodeficiency Diseases Consortium Conference, June 1, 2006. 
  • Nocardia osteomyelitis. Case report and review of the literature. 
  • Opportunistic infections and Kaposi's sarcoma in homosexual men. 
  • Outcome of domino hematopoietic stem cell transplantation in human subjects: An international case series. 
  • Outcomes and Treatment Strategies for Autoimmunity and Hyperinflammation in Patients with RAG Deficiency. 
  • PEG-ADA replacement therapy for adenosine deaminase deficiency: an update after 8.5 years. 
  • Paradoxical expression of adenosine deaminase in T cells cultured from a patient with adenosine deaminase deficiency and combine immunodeficiency. 
  • Partial splenectomy before a hematopoietic stem cell transplantation in children. 
  • Partial suppression of anchorage-independent growth and tumorigenicity in immunodeficient mice by transfection of the H-2 class I gene H-2Ld into a human colon cancer cell line (HCT). 
  • Pathology of parainfluenza virus infection in patients with congenital immunodeficiency syndromes. 
  • Persistent antibody depletion after rituximab in three children with autoimmune cytopenias. 
  • Pharmacokinetics and tolerability of a new intravenous immunoglobulin preparation, IGIV-C, 10% (Gamunex, 10%). 
  • Plasma therapy in immunodeficiency diseases. 
  • Plasma therapy in immunodeficiency diseases. 
  • Population prevalence of diagnosed primary immunodeficiency diseases in the United States. 
  • Practical guidance for the diagnosis and management of secondary hypogammaglobulinemia: A Work Group Report of the AAAAI Primary Immunodeficiency and Altered Immune Response Committees. 
  • 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). 
  • Prenatal test for X-linked severe combined immunodeficiency by analysis of maternal X-chromosome inactivation and linkage analysis. 
  • Prevalence of lymphocytopenia in severe combined immunodeficiency. 
  • Primary Immune Deficiency Treatment Consortium (PIDTC) report. 
  • Primary cellular immunodeficiencies. 
  • Primary immunodeficiency diseases due to defects in lymphocytes. 
  • Primary immunodeficiency diseases: dissectors of the immune system. 
  • Primary immunodeficiency disorders in pediatric patients: clinical features and imaging findings. 
  • Primary immunodeficiency mutation databases. 
  • Primary immunodeficiency or not? Making the correct diagnosis. 
  • Profound reduction of invariant natural killer T cells in the peripheral blood of a patient with interleukin-1 receptor-associated kinase 4 deficiency. 
  • Prolonged B-cell depletion in MuSK myasthenia gravis following rituximab treatment. 
  • Proposed explanation for S-adenosylhomocysteine hydrolase deficiency in purine nucleoside phosphorylase and hypoxanthine-guanine phosphoribosyltransferase-deficient patients. 
  • Pulmonary complications of primary immunodeficiencies. 
  • Purine nucleoside phosphorylase deficiency (PNP-def) presenting with lymphopenia and developmental delay: successful correction with umbilical cord blood transplantation. 
  • Rapid infusion of Sandoglobulin in patients with primary humoral immunodeficiency. 
  • Recipient Myd88 Deficiency Promotes Spontaneous Resolution of Kidney Allograft Rejection. 
  • Recommendations for live viral and bacterial vaccines in immunodeficient patients and their close contacts. 
  • Resistance of an adenosine kinase-deficient human lymphoblastoid cell line to effects of deoxyadenosine on growth, S-adenosylhomocysteine hydrolase inactivation, and dATP accumulation. 
  • Safety and Tolerability of Subcutaneous IgPro20 at High Infusion Parameters in Patients with Primary Immunodeficiency: Findings from the Pump-Assisted Administration Cohorts of the HILO Study. 
  • Safety and patient acceptability of intravenous immune globulin in 10% maltose. 
  • Screening for primary immunodeficiency diseases and follow-up testing. 
  • Screening of 181 Patients With Antibody Deficiency for Deficiency of Adenosine Deaminase 2 Sheds New Light on the Disease in Adulthood. 
  • Secondary immunodeficiencies and stem cell transplantation: issues of administration and safety of intravenous immunoglobulin. 
  • Seletalisib for Activated PI3Kδ Syndromes: Open-Label Phase 1b and Extension Studies. 
  • Serum IgD and IgE concentrations in immunodeficiency diseases. 
  • Severe combined immunodeficiency (SCID) with natural killer (NK) cell predominance. 
  • Severe combined immunodeficiency with leukopenia (reticular dysgenesis) in siblings: immunologic and histopathologic findings. 
  • Severe combined immunodeficiency with natural killer-cell predominance: abrogation of graft-versus-host disease and immunologic reconstitution with HLA-identical bone marrow cells. 
  • Specificity and function of "natural" antibodies in immunodeficient subjects: clues to B cell lineage and development. 
  • Stem-cell transplantation for inherited immunodeficiency disorders. 
  • Subcutaneous Immunoglobulin Replacement Therapy with Hizentra® is Safe and Effective in Children Less Than 5 Years of Age. 
  • Subcutaneous immunoglobulin replacement therapy with Hizentra, the first 20% SCIG preparation: a practical approach. 
  • Successful engraftment of human postnatal thymus in severe combined immune deficient (SCID) mice: differential engraftment of thymic components with irradiation versus anti-asialo GM-1 immunosuppressive regimens. 
  • Successful immune reconstitution in severe combined immunodeficiency despite Epstein-Barr virus and cytomegalovirus infections. 
  • Systemic IgG exposure and safety in patients with primary immunodeficiency: a randomized crossover study comparing a novel investigational wearable infusor versus the Crono pump. 
  • T cells and T-cell subsets in a large population of patients with primary immunodeficiency. 
  • The 1978 annual meeting of the American Rheumatism Association. 
  • The association between immunodeficiency and the development of autoimmune disease. 
  • The diagnosis of severe combined immunodeficiency (SCID): The Primary Immune Deficiency Treatment Consortium (PIDTC) 2022 Definitions. 
  • The genetics of Richter syndrome reveals disease heterogeneity and predicts survival after transformation. 
  • The human thymic microenvironment. Phenotypic characterization of Hassall's bodies with the use of monoclonal antibodies. 
  • The human thymic microenvironment: cortical thymic epithelium is an antigenically distinct region of the thymic microenvironment. 
  • The scaffold-dependent function of RIPK1 in dendritic cells promotes injury-induced colitis. 
  • The use of an intrathecal pump to manage intractable cancer pain in a pediatric patient: a case report. 
  • The use of intravenous immune globulin in immunodeficiency diseases. 
  • Tolerance and immunity after sequential lung and bone marrow transplantation from an unrelated cadaveric donor. 
  • Treatment of adenosine deaminase deficiency with polyethylene glycol-modified adenosine deaminase. 
  • Umbilical cord blood transplantation for non-malignant diseases. 
  • Unrelated immunodeficiency states may impact outcomes and immune checkpoint molecule expression in patients with mycosis fungoides: A clinicopathologic case-control study. 
  • Use of a human plaque-forming cell assay to study peripheral blood bursa-equivalent cell activation and excessive suppressor cell activity in humoral immunodeficiency. 
  • Use of a new chemically modified intravenous IgG preparation in severe primary humoral immunodeficiency: clinical efficacy and attempts to individualize dosage. 
  • Use of intravenous gamma-globulin in antibody immunodeficiency: results of a multicenter controlled trial. 
  • 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. 
  • Virologic and clinical outcomes of hepatitis B virus infection in HIV-HBV coinfected transplant recipients. 
  • WHIM syndrome caused by a single amino acid substitution in the carboxy-tail of chemokine receptor CXCR4. 
  • X-linked severe combined immunodeficiency. Diagnosis in males with sporadic severe combined immunodeficiency and clarification of clinical findings. 
  • [Polyethylene glycol-adenosine deaminase: a new adenosine deaminase deficiency therapy. Value of deoxyadenosine triphosphate determination for therapeutic monitoring]. 
  • [Schimke immuno-osseous dysplasia]. 
• 

  Keywords of People

  • Buckley, Rebecca Hatcher, James Buren Sidbury Distinguished Professor Emeritus of Pediatrics, in the School of Medicine, Pediatrics, Allergy and Immunology
  • Cianciolo, George James, Associate Professor Emeritus of Pathology, Pathology
  • Kelsoe, Garnett H., James B. Duke Distinguished Professor of Immunology, Integrative Immunobiology
  • Krangel, Michael S., George Barth Geller Distinguished Professor of Immunology, Integrative Immunobiology
  • Markert, Mary Louise, Professor Emeritus of Pediatrics, Pediatrics, Allergy and Immunology
  • Weinhold, Kent James, Joseph W. and Dorothy W. Beard Distinguished Professor of Experimental Surgery, Integrative Immunobiology
  • Yi, John S, Adjunct Assistant Professor in the Department of Surgery, Surgery, Surgical Sciences