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Clinical Manifestations of Disease in X-Linked Carriers of Chronic Granulomatous Disease

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.

Publication metadata

Author(s): Battersby AC, Cale CM, Goldblatt D, Gennery AR

Publication type: Review

Publication status: Published

Journal: Journal of Clinical Immunology

Year: 2013

Volume: 33

Issue: 8

Pages: 1276-1284

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



DOI: 10.1007/s10875-013-9939-5