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

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...

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Bibliographic Details
Published in:Journal of clinical immunology 2013-11, Vol.33 (8), p.1276-1284
Main Authors: Battersby, A. C., Cale, C. M., Goldblatt, D., Gennery, A. R.
Format: Article
Language:English
Subjects:
Biomedical and Life Sciences
Biomedicine
Genetic Carrier Screening
Granulomatous Disease, Chronic - genetics
Granulomatous Disease, Chronic - immunology
Granulomatous Disease, Chronic - pathology
Humans
Immunology
Infectious Diseases
Internal Medicine
Key Review Article
Lupus Erythematosus, Discoid - genetics
Lupus Erythematosus, Discoid - immunology
Lupus Erythematosus, Discoid - pathology
Medical Microbiology
NADPH Oxidases - deficiency
NADPH Oxidases - genetics
Neutrophils - immunology
Neutrophils - pathology
Randomized Controlled Trials as Topic
Respiratory Burst - genetics
Respiratory Burst - immunology
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Summary: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.
ISSN:0271-9142
1573-2592
DOI:10.1007/s10875-013-9939-5