Journal of Inherited Metabolic Disease

, Volume 15, Issue 4, pp 674–682 | Cite as

The molecular basis of X-linked immunodeficiency disease

  • C. Kinnon
  • R. Levinsky
The X Chromosome


The molecular bases of the X-linked immunodeficiency diseases remain largely undetermined. Two of the genes involved in these diseases have been isolated, namely the genes for X-linked chronic granulomatous disease and properdin deficiency, and substantial progress has now been made in identifying the genes which are defective in the other five diseases, Wiskott-Aldrich syndrome, X-linked severe combined immunodeficiency, X-linked agammaglobulinaemia, X-linked hyper-IgM and X-linked lymphoproliferative syndrome. We review here the nature of the diseases, progress made in identifying and isolating the genes involved and the prospects for improved prenatal detection, carrier status determination and treatment of these life-threatening conditions.


Public Health Internal Medicine Metabolic Disease Molecular Base Carrier Status 
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Copyright information

© SSIEM and Kluwer Academic Publishers 1992

Authors and Affiliations

  • C. Kinnon
    • 1
  • R. Levinsky
    • 1
  1. 1.Molecular Immunology Unit, Institute of Child HealthUniversity of LondonLondonUK

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