Jennifer M Puck, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
Published online: January 2006
DOI: 10.1038/npg.els.0005523
Inherited immunological disorders include a diverse range of diseases characterized by susceptibility to one or more classes of infections, immune dysregulation (autoimmunity) or both.
Keywords: severe combined immunodeficiency; agammaglobulinemia; autoimmunity; common variable immunodeficiency; gene therapy
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Figure 1. Immunodeficiency loci on the X chromosome. Shown are the gene name (in italic capitals), the disease name and any common abbreviation for the disease name.
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| References | |
| Aiuti A, Slavin S, Aker M, et al. (2002) Correction of ADA–SCID by stem cell gene therapy combined with nonmyeloablative conditioning. Science 296: 2410–2413. | |
| Bjorses P, Aaltonen J, Horelli-Kuitunen N, Yaspo ML and Peltonen L (1998) Gene defect behind APECED: a new clue to autoimmunity. Human Molecular Genetics 7: 1547–1553. | |
| Blaese RM, Culver KW, Miller AD, et al. (1995) T lymphocyte-directed gene therapy for ADA–SCID: initial trial results after 4 years. Science 270: 475–480. | |
| Buckley RH, Schiff RI, Schiff SE, et al. (1997) Human severe combined immunodeficiency (SCID): genetic, phenotypic and functional diversity in 108 infants. Journal of Pediatrics 130: 378–387. | |
| Fisher GH, Rosenberg FJ, Straus SE, et al. (1995) Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome. Cell 81: 935–946. | |
| Flake AW, Roncarolo MG, Puck JM, et al. (1996) Treatment of X-linked severe combined immunodeficiency by in utero transplantation of paternal bone marrow. New England Journal of Medicine 335: 1806–1810. | |
| Hacein-Bey-Abina S, Le Deist F, Carlier F, et al. (2002) Sustained correction of X-linked severe combined immunodeficiency by ex vivo gene therapy. New England Journal of Medicine 346: 1185–1193. | |
| Myers LA, Patel DD, Puck JM and Buckley RH (2002) Hematopoietic stem cell transplantation for SCID in the neonatal period leads to superior thymic output and improved survival. Blood 99: 872–878. | |
| Noguchi M, Yi H, Rosenblatt HM, et al. (1993) Interleukin-2 receptor chain mutation results in X-linked severe combined immunodeficiency in humans. Cell 73: 147–156. | |
| Puck JM, Deschenes SM, Porter JC, et al. (1993) The interleukin-2 receptor chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1. Human Molecular Genetics 2: 1099–1104. | |
| Royer-Pokora B, Kunkel LM, Monaco AP, et al. (1986) Cloning the gene for an inherited human disorder – chronic granulomatous disease – on the basis of its chromosomal location. Nature 322: 32–38. | |
| Tsukada S, Saffran DC, Rawlings DJ, et al. (1993) Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia. Cell 72: 279–290. | |
| Vetrie D, Vorechovsky I, Sideras P, et al. (1993) The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases. Nature 361: 226–233. | |
| Further Reading | |
| Derry JM, Ochs HD and Francke U (1994) Isolation of a novel gene mutated in Wiskott–Aldrich syndrome. Cell 78: 635–644. | |
| Grimbacher B, Holland SM, Gallin JI, et al. (1999) Hyper-IgE recurrent infection syndrome: a multisystem disorder. New England Journal of Medicine 340: 692–702. | |
| book Ochs H, Smith CIE and Puck JM (eds.) (1999) Primary Immunodeficiency Diseases: A Molecular and Genetic Approach. New York: Oxford University Press. | |
| Puck JM (1997) Primary immunodeficiency diseases. Journal of the American Medical Association 278: 1835–1841. | |
| Savitsky K, Bar-Shira A, Gilad S, et al. (1995) A single ataxia-telangiectasia gene with a product similar to PI-3 kinase. Science 268: 1749–1753. | |
| book Stiehm ER (1996) Immunologic Disorders of Infants and Children, 4th edn Philadelphia, PA: WB Saunders. | |
| Web Links | |
| ePath Agammaglobulinemia, X-linked (XLA); LocusID: 179. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=179 | |
| ePath Autoimmune lymphoproliferative syndrome (ALPS); LocusID: 843. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=843 | |
| ePath Severe combined immunodeficiency (SCID) LocusID: 100. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=100 | |
| ePath Agammaglobulinemia, X-linked (XLA); MIM number 300300. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?300300 | |
| ePath Autoimmune lymphoproliferative syndrome (ALPS); MIM number 601859. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?601859 | |
| ePath Severe combined immunodeficiency (SCID); MIM number 202500. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?202500 | |
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