Immunological Disorders: Hereditary


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

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.



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.

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.

Stiehm ER (1996) Immunologic Disorders of Infants and Children, 4th edn Philadelphia, PA: WB Saunders.

Web Links

Agammaglobulinemia, X‐linked (XLA); LocusID: 179. LocusLink:

Autoimmune lymphoproliferative syndrome (ALPS); LocusID: 843. LocusLink:

Severe combined immunodeficiency (SCID) LocusID: 100. LocusLink:

Agammaglobulinemia, X‐linked (XLA); MIM number 300300. OMIM:‐post/Omim/dispmim?300300

Autoimmune lymphoproliferative syndrome (ALPS); MIM number 601859. OMIM:‐post/Omim/dispmim?601859

Severe combined immunodeficiency (SCID); MIM number 202500. OMIM:‐post/Omim/dispmim?202500

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How to Cite close
Puck, Jennifer M(Jan 2006) Immunological Disorders: Hereditary. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1038/npg.els.0005523]