Severe Combined Immunodeficiency

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  Subject Areas on Research

  • A 24-Year Enzyme Replacement Therapy in an Adenosine-deaminase-Deficient Patient. 
  • A 9-yr evaluation of carrier erythrocyte encapsulated adenosine deaminase (ADA) therapy in a patient with adult-type ADA deficiency. 
  • A case of atypical, complete DiGeorge syndrome without 22q11 mutation. 
  • A homozygous 5 base-pair deletion in exon 10 of the adenosine deaminase (ADA) gene in a child with severe combined immunodeficiency and very low levels of ADA mRNA and protein. 
  • A missense mutation in exon 4 of the human adenosine deaminase gene causes severe combined immunodeficiency. 
  • A nonsense mutation in IKBKB causes combined immunodeficiency. 
  • A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency. 
  • ADA Deficiency: Evaluation of the Clinical and Laboratory Features and the Outcome. 
  • ADA-SCID with 'WAZA-ARI' mutations that synergistically abolished ADA protein stability. 
  • ADA2 deficiency (DADA2) associated with Evans syndrome and a severe ADA2 genotype. 
  • Aberrant T-cell exhaustion in severe combined immunodeficiency survivors with poor T-cell reconstitution after transplantation. 
  • Abnormal development of thymic dendritic and epithelial cells in human X-linked severe combined immunodeficiency. 
  • Actionable diagnosis of neuroleptospirosis by next-generation sequencing. 
  • Adenosine Deaminase (ADA)-Deficient Severe Combined Immune Deficiency (SCID) in the US Immunodeficiency Network (USIDNet) Registry. 
  • Adenosine deaminase deficiency in adults. 
  • Adenosine deaminase deficiency with mosaicism for a "second-site suppressor" of a splicing mutation: decline in revertant T lymphocytes during enzyme replacement therapy. 
  • Adenosine deaminase deficiency: clinical expression, molecular basis, and therapy. 
  • Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles. 
  • Adenosine deaminase type 2 deficiency masquerading as GATA2 deficiency: Successful hematopoietic stem cell transplantation. 
  • Adenosine-deaminase-deficient mice die perinatally and exhibit liver-cell degeneration, atelectasis and small intestinal cell death. 
  • Advances in the understanding and treatment of human severe combined immunodeficiency. 
  • Altered intracellular and extracellular signaling leads to impaired T-cell functions in ADA-SCID patients. 
  • Amendment to Clinical Research Project. Project 90-C-195. April 1, 1993. Treatment of severe combined immunodeficiency disease (SCID) due to adenosine deaminase deficiency with autologous lymphocytes transduced with a human ADA gene. 
  • American Pediatric Society's 2014 John Howland Award acceptance lecture: saving lives through early diagnosis. 
  • Antibody responses to bacteriophage phi X174 in patients with adenosine deaminase deficiency. 
  • Arrested rearrangement of TCR V beta genes in thymocytes from children with X-linked severe combined immunodeficiency disease. 
  • Association of reticular dysgenesis (thymic alymphoplasia and congenital aleukocytosis) with bilateral sensorineural deafness. 
  • Autoimmune phenotype with type I interferon signature in two brothers with ADA2 deficiency carrying a novel CECR1 mutation. 
  • Autologous Ex Vivo Lentiviral Gene Therapy for Adenosine Deaminase Deficiency. 
  • B-cell differentiation and IL-21 response in IL2RG/JAK3 SCID patients after hematopoietic stem cell transplantation. 
  • B-cell function in severe combined immunodeficiency after stem cell or gene therapy: a review. 
  • B-cell reconstitution for SCID: should a conditioning regimen be used in SCID treatment? 
  • Bacillus species infection of the skin as a presentation of severe combined immunodeficiency disease. 
  • Bortezomib for effective treatment of a child with refractory autoimmune hemolytic anemia post allogeneic hematopoietic stem cell transplant. 
  • Brief report: hepatic dysfunction as a complication of adenosine deaminase deficiency. 
  • CD45-deficient severe combined immunodeficiency caused by uniparental disomy. 
  • Case Report: Consistent disease manifestations with a staggered time course in two identical twins affected by adenosine deaminase 2 deficiency. 
  • Cerebral lymphoma in an adenosine deaminase-deficient patient with severe combined immunodeficiency receiving polyethylene glycol-conjugated adenosine deaminase. 
  • Chronic rotavirus infection in an infant with severe combined immunodeficiency: successful treatment by hematopoietic stem cell transplantation. 
  • Clinical efficacy of gene-modified stem cells in adenosine deaminase-deficient immunodeficiency. 
  • Clinical, Immunological, and Molecular Features of Severe Combined Immune Deficiency: A Multi-Institutional Experience From India. 
  • Comparison of outcomes of hematopoietic stem cell transplantation without chemotherapy conditioning by using matched sibling and unrelated donors for treatment of severe combined immunodeficiency. 
  • Consensus approach for the management of severe combined immune deficiency caused by adenosine deaminase deficiency. 
  • Correct splicing despite mutation of the invariant first nucleotide of a 5' splice site: a possible basis for disparate clinical phenotypes in siblings with adenosine deaminase deficiency. 
  • Corticosteroids regulate epithelial cell differentiation and Hassall body formation in the human thymus. 
  • 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. 
  • Cutaneous complications of BCG vaccination in infants with immune disorders: two cases and a review of the literature. 
  • Defective IL7R expression in T(-)B(+)NK(+) severe combined immunodeficiency. 
  • Defective dendritic cell maturation in a child with nucleotide excision repair deficiency and CD4 lymphopenia. 
  • Deficiency of Adenosine Deaminase 2 in Adults and Children: Experience From India. 
  • Deficiency of adenosine deaminase 2: a case series revealing clinical manifestations, genotypes and treatment outcomes from Turkey. 
  • Delayed onset adenosine deaminase deficiency associated with acute disseminated encephalomyelitis. 
  • Development of gene therapy for immunodeficiency: adenosine deaminase deficiency. 
  • Diagnosis of 22q11.2 deletion syndrome and artemis deficiency in two children with T-B-NK+ immunodeficiency. 
  • Diagnosis, Treatment and Long-Term Follow Up of Patients with ADA Deficiency: a Single-Center Experience. 
  • Diagnostic assay to assist clinical decisions for unclassified severe combined immune deficiency. 
  • Disrupted N-linked glycosylation as a disease mechanism in deficiency of ADA2. 
  • Effect of polyethylene glycol-modified adenosine deaminase (PEG-ADA) therapy in two ADA-deficient children: measurement of erythrocyte deoxyadenosine triphosphate as a useful tool. 
  • Effects of enzyme replacement therapy on immune function in ADA deficiency patient. 
  • Elevated IgE and atopy in patients treated for early-onset ADA-SCID. 
  • Engraftment of gene-modified umbilical cord blood cells in neonates with adenosine deaminase deficiency. 
  • Enzyme replacement therapy of adenosine deaminase deficiency with polyethylene glycol-modified adenosine deaminase (PEG-ADA). 
  • Enzyme replacement therapy with polyethylene glycol-adenosine deaminase in adenosine deaminase deficiency: overview and case reports of three patients, including two now receiving gene therapy. 
  • Epstein-Barr-associated leiomyomatosis and T-cell chimerism after haploidentical bone marrow transplantation for severe combined immunodeficiency disease. 
  • Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: the Primary Immune Deficiency Treatment Consortium experience. 
  • Exon skipping in purine nucleoside phosphorylase mRNA processing leading to severe immunodeficiency. 
  • FOXN1 compound heterozygous mutations cause selective thymic hypoplasia in humans. 
  • FOXN1 mutation abrogates prenatal T-cell development in humans. 
  • Failure to thrive, diarrhea, cough, and oral candidiasis in a three-month-old boy. 
  • First use of thymus transplantation therapy for FOXN1 deficiency (nude/SCID): a report of 2 cases. 
  • Fiscal implications of newborn screening in the diagnosis of severe combined immunodeficiency. 
  • Flow cytometry analysis of adenosine deaminase (ADA) expression: a simple and reliable tool for the assessment of ADA-deficient patients before and after gene therapy. 
  • Food allergy in a patient with adenosine deaminase deficiency undergoing enzyme replacement with polyethylene glycol-modified adenosine deaminase. 
  • Four new adenosine deaminase mutations, altering a zinc-binding histidine, two conserved alanines, and a 5' splice site. 
  • Full hematopoietic engraftment after allogeneic bone marrow transplantation without cytoreduction in a child with severe combined immunodeficiency. 
  • Gastroesophageal reflux and severe combined immunodeficiency. 
  • Gene therapy for SCID--a complication after remarkable progress. 
  • Gene therapy for adenosine deaminase-deficient severe combined immune deficiency: clinical comparison of retroviral vectors and treatment plans. 
  • Gene therapy for human SCID: dreams become reality. 
  • Gene therapy for immunodeficiency due to adenosine deaminase deficiency. 
  • Genotype is an important determinant of phenotype in adenosine deaminase deficiency. 
  • Genotype, phenotype, and outcomes of nine patients with T-B+NK+ SCID. 
  • Haploidentical bone marrow stem cell transplantation in human severe combined immunodeficiency. 
  • Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients. 
  • Hematopoietic stem cell transplantation for severe combined immunodeficiency in the neonatal period leads to superior thymic output and improved survival. 
  • Hematopoietic stem cell transplantation rescues the immunologic phenotype and prevents vasculopathy in patients with adenosine deaminase 2 deficiency. 
  • Hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency. 
  • Heterogeneity of phenotype in two siblings with adenosine deaminase deficiency. 
  • Homozygous Splice ADA2 Gene Mutation Causing ADA-2 Deficiency. 
  • How I treat ADA deficiency. 
  • Human equivalent of the mouse Nude/SCID phenotype: long-term evaluation of immunologic reconstitution after bone marrow transplantation. 
  • Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants. 
  • Human syndromes of immunodeficiency and dysregulation are characterized by distinct defects in T-cell receptor repertoire development. 
  • Immune reconstitution and survival of 100 SCID patients post-hematopoietic cell transplant: a PIDTC natural history study. 
  • Immunodeficiency diseases. 
  • Immunologic characterization of CD7-deficient mice. 
  • Immunologic reconstitution during PEG-ADA therapy in an unusual mosaic ADA deficient patient. 
  • Improving cellular therapy for primary immune deficiency diseases: recognition, diagnosis, and management. 
  • Impulse oscillometry identifies peripheral airway dysfunction in children with adenosine deaminase deficiency. 
  • Infections in Infants with SCID: Isolation, Infection Screening, and Prophylaxis in PIDTC Centers. 
  • Interleukin 7 receptor alpha-chain-mutation severe combined immunodeficiency without lymphopenia: correction with haploidentical T-cell-depleted bone marrow transplantation. 
  • Intrinsic Defects in B Cell Development and Differentiation, T Cell Exhaustion and Altered Unconventional T Cell Generation Characterize Human Adenosine Deaminase Type 2 Deficiency. 
  • Jak3 and the pathogenesis of severe combined immunodeficiency. 
  • Janus kinase 3 (JAK3) deficiency: clinical, immunologic, and molecular analyses of 10 patients and outcomes of stem cell transplantation. 
  • Long-Term Clinical Outcomes of Severe Combined Immunodeficiency Patients Given Nonablative Marrow Transplants. 
  • 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. 
  • Long-term efficacy of enzyme replacement therapy for adenosine deaminase (ADA)-deficient severe combined immunodeficiency (SCID). 
  • Long-term outcome of non-ablative booster BMT in patients with SCID. 
  • Long-term outcomes after gene therapy for adenosine deaminase severe combined immune deficiency. 
  • Long-term outcomes of nonconditioned patients with severe combined immunodeficiency transplanted with HLA-identical or haploidentical bone marrow depleted of T cells with anti-CD6 mAb. 
  • Long-term survival and late deaths after hematopoietic cell transplantation for primary immunodeficiency diseases and inborn errors of metabolism. 
  • Management options for adenosine deaminase deficiency; proceedings of the EBMT satellite workshop (Hamburg, March 2006). 
  • Mitochondrial basis for immune deficiency. Evidence from purine nucleoside phosphorylase-deficient mice. 
  • Molecular basis for paradoxical carriers of adenosine deaminase (ADA) deficiency that show extremely low levels of ADA activity in peripheral blood cells without immunodeficiency. 
  • Molecular basis of adenosine deaminase deficiency. 
  • Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution. 
  • Morbidity in an adenosine deaminase-deficient patient during 27 years of enzyme replacement therapy. 
  • Multiple gamma c-dependent cytokines regulate T-cell development. 
  • Mutation analysis of IL2RG in human X-linked severe combined immunodeficiency. 
  • Mutation of Jak3 in a patient with SCID: essential role of Jak3 in lymphoid development. 
  • Mutations in genes required for T-cell development: IL7R, CD45, IL2RG, JAK3, RAG1, RAG2, ARTEMIS, and ADA and severe combined immunodeficiency: HuGE review. 
  • Myeloid dysplasia and bone marrow hypocellularity in adenosine deaminase-deficient severe combined immune deficiency. 
  • New insights into adenosine-receptor-mediated immunosuppression and the role of adenosine in causing the immunodeficiency associated with adenosine deaminase deficiency. 
  • Newborn Screening for Severe Combined Immunodeficiency and T-cell Lymphopenia in California, 2010-2017. 
  • Newborn screening for severe combined immunodeficiency (SCID): a review. 
  • Newborn tandem mass spectroscopy screening for adenosine deaminase deficiency. 
  • Normal IgH Repertoire Diversity in an Infant with ADA Deficiency After Gene Therapy. 
  • Novel splicing, missense, and deletion mutations in seven adenosine deaminase-deficient patients with late/delayed onset of combined immunodeficiency disease. Contribution of genotype to phenotype. 
  • Nursing care of the premature infant with severe combined immunodeficiency disease. 
  • Outcomes following treatment for ADA-deficient severe combined immunodeficiency: a report from the PIDTC. 
  • Outcomes in two Japanese adenosine deaminase-deficiency patients treated by stem cell gene therapy with no cytoreductive conditioning. 
  • Outcomes of patients with severe combined immunodeficiency treated with hematopoietic stem cell transplantation with and without preconditioning. 
  • PEG-ADA: an alternative to haploidentical bone marrow transplantation and an adjunct to gene therapy for adenosine deaminase deficiency. 
  • Patients with adenosine deaminase deficiency surviving after hematopoietic stem cell transplantation are at high risk of CNS complications. 
  • Positive Family History, Infection, Low Absolute Lymphocyte Count (ALC), and Absent Thymic Shadow: Diagnostic Clues for All Molecular Forms of Severe Combined Immunodeficiency (SCID). 
  • Post-transplantation B cell function in different molecular types of SCID. 
  • Primary cellular immunodeficiencies. 
  • Primary immunodeficiency diseases: dissectors of the immune system. 
  • Primary immunodeficiency or not? Making the correct diagnosis. 
  • Prolonged pancytopenia in a gene therapy patient with ADA-deficient SCID and trisomy 8 mosaicism: a case report. 
  • Pulmonary complications of primary immunodeficiencies. 
  • Purine nucleoside phosphorylase deficiency. 
  • 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. 
  • Recurrent infection, chronic diarrhea, and failure to thrive in a seven-month-old infant. 
  • Reduced thymic output, increased spontaneous apoptosis and oligoclonal B cells in polyethylene glycol-adenosine deaminase-treated patients. 
  • Renal Amyloidosis in Deficiency of Adenosine Deaminase 2: Successful Experience With Canakinumab. 
  • SCID genotype and 6-month posttransplant CD4 count predict survival and immune recovery. 
  • SCID: A Pediatric Emergency. 
  • 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. 
  • Skin complications of Bacillus Calmette-Guérin immunization. 
  • Somatic mosaicism caused by monoallelic reversion of a mutation in T cells of a patient with ADA-SCID and the effects of enzyme replacement therapy on the revertant phenotype. 
  • Specificity and function of "natural" antibodies in immunodeficient subjects: clues to B cell lineage and development. 
  • Successful bone marrow transplantation with reduced intensity conditioning in a patient with delayed-onset adenosine deaminase deficiency. 
  • Successful treatment of disseminated BCG in a patient with severe combined immunodeficiency. 
  • Suppression of an antibody to adenosine-deaminase (ADA) in an ADA-deficient patient receiving polyethylene glycol modified adenosine deaminase. 
  • T cell repertoire development in humans with SCID after nonablative allogeneic marrow transplantation. 
  • T lymphocyte ontogeny in adenosine deaminase-deficient severe combined immune deficiency after treatment with polyethylene glycol-modified adenosine deaminase. 
  • T-B+NK+ severe combined immunodeficiency caused by complete deficiency of the CD3zeta subunit of the T-cell antigen receptor complex. 
  • Tandem mass spectrometry, but not T-cell receptor excision circle analysis, identifies newborns with late-onset adenosine deaminase deficiency. 
  • The binding site of human adenosine deaminase for CD26/Dipeptidyl peptidase IV: the Arg142Gln mutation impairs binding to cd26 but does not cause immune deficiency. 
  • The diagnosis of severe combined immunodeficiency (SCID): The Primary Immune Deficiency Treatment Consortium (PIDTC) 2022 Definitions. 
  • The diagnosis of severe combined immunodeficiency: Implementation of the PIDTC 2022 Definitions. 
  • 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). 
  • The genetic landscape of severe combined immunodeficiency in the United States and Canada in the current era (2010-2018). 
  • The long and the short of telomeres in bone marrow recipient SCID patients. 
  • The long quest for neonatal screening for severe combined immunodeficiency. 
  • The multiple causes of human SCID. 
  • 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. 
  • The structure and function of gamma c-dependent cytokines and receptors: regulation of T lymphocyte development and homeostasis. 
  • The use of enzyme therapy to regulate the metabolic and phenotypic consequences of adenosine deaminase deficiency in mice. Differential impact on pulmonary and immunologic abnormalities. 
  • Three new adenosine deaminase mutations that define a splicing enhancer and cause severe and partial phenotypes: implications for evolution of a CpG hotspot and expression of a transduced ADA cDNA. 
  • Thymic function after hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency. 
  • Thymic output, T-cell diversity, and T-cell function in long-term human SCID chimeras. 
  • Transplantation of hematopoietic stem cells in human severe combined immunodeficiency: longterm outcomes. 
  • Transplantation outcomes for severe combined immunodeficiency, 2000-2009. 
  • Treatment of severe combined immunodeficiency. 
  • Treatment options for genetically determined immunodeficiency. 
  • Two mutational hotspots in the interleukin-2 receptor gamma chain gene causing human X-linked severe combined immunodeficiency. 
  • Uncontrolled Epstein-Barr Virus as an Atypical Presentation of Deficiency in ADA2 (DADA2). 
  • Unreported Missense Mutation in the Dimerization Domain of ADA2 Leads to ADA2 Deficiency Associated with Severe Oral Ulcers and Neutropenia in a Female Somalian Patient-Addendum to the Genotype-Phenotype Puzzle. 
  • Unusual clinical and immunologic manifestations of transplacentally acquired maternal T cells in severe combined immunodeficiency. 
  • Vasculitis as a Major Morbidity Factor in Patients With Partial RAG Deficiency. 
  • Warts and DADA2: a Mere Coincidence? 
  • Why newborn screening for severe combined immunodeficiency is essential: a case report. 
  • [Treatment of adenosine deaminase deficiency with adenosine deaminase combined with polyethylene glycol]. 
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  Keywords of People

  • Buckley, Rebecca Hatcher, James Buren Sidbury Distinguished Professor Emeritus of Pediatrics, in the School of Medicine, Pediatrics, Allergy and Immunology
  • Krangel, Michael S., George Barth Geller Distinguished Professor of Immunology, Integrative Immunobiology
  • Tarrant, Teresa Kathleen, Associate Professor of Medicine, Medicine, Rheumatology and Immunology