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Lookup NU author(s): Dr Alex Battersby,
Professor Andrew GenneryORCiD
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Chronic Granulomatous Disease (CGD) is a rare primary immunodeficiency due to a defect in one of the NADPH oxidase complex subunits; 70 % of cases are X-linked, due to a CYBB mutation, resulting in defective production of gp91(PHOX). Female carriers of X-linked CGD have previously been considered to be unaffected. It is increasingly recognized that they may suffer from similar problems to CGD patients. This review will examine the literature about clinical manifestations of disease in X-linked carriers of CGD.
Author(s): Battersby AC, Cale CM, Goldblatt D, Gennery AR
Publication type: Review
Publication status: Published
Journal: Journal of Clinical Immunology
Print publication date: 01/11/2013
Online publication date: 29/09/2013
Acceptance date: 16/09/2013
ISSN (print): 0271-9142
ISSN (electronic): 1573-2592
Publisher: SPRINGER/PLENUM PUBLISHERS