title: Advances in the understanding and treatment of human severe combined immunodeficiency.
abstract: 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 activation genes 1 and 2, and CD45. Except for adenosine deaminase, knowledge concerning the latter causes of human SCID has accrued since 1993. Advances in the treatment of this syndrome have been no less significant. Since 1982 it has been possible, by rigorous depletion of T cells from the donor marrow, to use related marrow donors other than HLA-identical siblings for successful treatment of infants with this condition. The success rate with the latter type of transplant exceeds 95% if a transplant can be performed within the first 3.5 mo of life, making early diagnosis crucial. Recently, gene therapy has also been successful in infants with X-linked SCID.
authors.affiliation: Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA. BUCKL003@mc.duke.edu
authors.forename: R H
authors.initials: RH
authors.lastname: Buckley
mesh_terms: D000243:Adenosine Deaminase / Q000172:deficiency / Q000235:genetics; D000818:Animals; D001402:B-Lymphocytes / Q000276:immunology; D016026:Bone Marrow Transplantation / Q000379:methods; D015331:Cohort Studies; D004268:DNA-Binding Proteins / Q000235:genetics; D016654:Genes, RAG-1 / Q000235:genetics; D015316:Genetic Therapy; D006086:Graft vs Host Disease; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D053616:Janus Kinase 3; D007694:Killer Cells, Natural / Q000276:immunology; D017493:Leukocyte Common Antigens / Q000235:genetics; D018655:Lymphocyte Count; D008212:Lymphocyte Depletion; D009687:Nuclear Proteins; D011505:Protein-Tyrosine Kinases / Q000172:deficiency / Q000235:genetics; D018121:Receptors, Cytokine / Q000172:deficiency / Q000235:genetics; D016511:Severe Combined Immunodeficiency / Q000235:genetics* / Q000276:immunology / Q000628:therapy*; D016019:Survival Analysis; D013601:T-Lymphocytes / Q000276:immunology / Q000502:physiology*; D016896:Treatment Outcome
chemical_list: D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; C499311:RAG2 protein, human; D018121:Receptors, Cytokine; C064655:V(D)J recombination activating protein 2; D011505:Protein-Tyrosine Kinases; C507933:JAK3 protein, human; D053616:Janus Kinase 3; D017493:Leukocyte Common Antigens; D000243:Adenosine Deaminase