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X-linked immunodeficiencies

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Abstract

Recent advances in molecular genetics have allowed identification of at least seven genes involved in X-linked immunodeficiencies. This has resulted not only in improved diagnostic possibilities but also in a better understanding of the pathophysiology of these disorders. In some cases, mutations in the same gene have been shown to cause distinct clinical and immunologic phenotypes, demonstrating a strong genotype-phenotype correlation. Identification of the molecular basis of these diseases has permitted creation of disease-specific registries, with a better characterization of the clinical and immunologic features associated with the various forms of X-linked immunodeficiencies. Additionally, gene therapy has been attempted in X-linked severe combined immune deficiency (XSCID), with clear evidence of successful correction of the pathology, and the appearance of severe adverse effects.

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  1. Department of Pediatrics, University of Washington, Children’s Hospital and Regional Medical Center, 4800 Sand Point Way NE, 98105, Seattle, WA, USA

    Hans D. Ochs MD & Luigi D. Notarangelo MD

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Ochs, H.D., Notarangelo, L.D. X-linked immunodeficiencies. Curr Allergy Asthma Rep 4, 339–348 (2004). https://doi.org/10.1007/s11882-004-0082-5

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