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Erschienen in: Journal of Clinical Immunology 8/2013

01.11.2013 | Key Review Article

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

verfasst von: A. C. Battersby, C. M. Cale, D. Goldblatt, A. R. Gennery

Erschienen in: Journal of Clinical Immunology | Ausgabe 8/2013

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Abstract

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 gp91PHOX. 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.
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Metadaten
Titel
Clinical Manifestations of Disease in X-Linked Carriers of Chronic Granulomatous Disease
verfasst von
A. C. Battersby
C. M. Cale
D. Goldblatt
A. R. Gennery
Publikationsdatum
01.11.2013
Verlag
Springer US
Erschienen in
Journal of Clinical Immunology / Ausgabe 8/2013
Print ISSN: 0271-9142
Elektronische ISSN: 1573-2592
DOI
https://doi.org/10.1007/s10875-013-9939-5

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