Clinical manifestations of disease in X-linked carriers of chronic granulomatous disease
AC Battersby, CM Cale, D Goldblatt… - Journal of clinical …, 2013 - Springer
AC Battersby, CM Cale, D Goldblatt, AR Gennery
Journal of clinical immunology, 2013•SpringerAbstract 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.
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.
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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