Immunological Disorders: Hereditary

Abstract

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.

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References

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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: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=179

Autoimmune lymphoproliferative syndrome (ALPS); LocusID: 843. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=843

Severe combined immunodeficiency (SCID) LocusID: 100. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=100

Agammaglobulinemia, X‐linked (XLA); MIM number 300300. OMIM: http://www.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?300300

Autoimmune lymphoproliferative syndrome (ALPS); MIM number 601859. OMIM: http://www.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?601859

Severe combined immunodeficiency (SCID); MIM number 202500. OMIM: http://www.ncbi.nlm.nih.gov/htbin‐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. http://www.els.net [doi: 10.1038/npg.els.0005523]