Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2013 Nov;33(8):1276-84.
doi: 10.1007/s10875-013-9939-5.

Clinical manifestations of disease in X-linked carriers of chronic granulomatous disease

A C Battersby, A M Cale, D Goldblatt, A R Gennery
Review

Clinical manifestations of disease in X-linked carriers of chronic granulomatous disease

A C Battersby et al. J Clin Immunol. 2013 Nov.

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.

PubMed Disclaimer

References

    1. Clin Chem. 2002 May;48(5):780-1 - PubMed
    1. Blood. 1996 Mar 1;87(5):1663-81 - PubMed
    1. Medicine (Baltimore). 2000 May;79(3):155-69 - PubMed
    1. Dermatology. 1997;195(3):280-3 - PubMed
    1. Arch Dis Child. 2001 Feb;84(2):147-51 - PubMed

MeSH terms

LinkOut - more resources