The Molecular Basis of X-linked Immunodeficiency Disease

Overview

Journal J Inherit Metab Dis

Publisher Wiley

Date 1992 Jan 1

PMID 1528025

Citations 2

Authors

C Kinnon

R Levinsky

Affiliations

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Abstract

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.

Citing Articles

Chronic granulomatous disease: a review of the infectious and inflammatory complications.

Song E, Jaishankar G, Saleh H, Jithpratuck W, Sahni R, Krishnaswamy G Clin Mol Allergy. 2011; 9(1):10.

PMID: 21624140 PMC: 3128843. DOI: 10.1186/1476-7961-9-10.

X-linked severe combined immunodeficiency disease and the gamma c receptor component: prospects for molecular diagnosis.

Farner N, Voss S, Sondel P Clin Diagn Lab Immunol. 1995; 2(5):518-23.

PMID: 8548528 PMC: 170193. DOI: 10.1128/cdli.2.5.518-523.1995.

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