CDiReC - Chronic Granulomatous Disease (CGD) Diagnosis and Research Center

CDiReC : Centre Diagnostic et Recherche sur la CGD (Granulomatose Septique Chronique)

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CGD (Chronic Granulomatous Disease) is due to a defect in the NADPH oxidase complex.

The active complex assembles from membrane components (Nox2/p22phox) and cytosolic components (p47phox=NCF1, p67phox=NCF2).

Other components (p40phox=NCF4) and the small G protein Rac2 are not associated so far with cases of CGD.

Short history of CGD Discovery

1959 Bridge et al.

First description of a «Fatal granulomatous» in four boys proposed to be an X linked syndrome

1966-67 Holmes et al, Baehner and Nathan.

Failure of respiratory burst in patients having a «familial granulomatosis»

1978 Segal and Jones

Identified the missing element in XCGD; cytochrome b situated in the plasma membrane of neutrophils

1983 Segal et al.

A multicenter european evaluation of CGD highlighted that CGD existed in female. Discovery of autosomal recessive forms of CGD

1985-1987 Segal et al, Umei et al and Curnutte et al.

Demonstration of the importance of cytosolic components of neutrophils in the NADPH oxidase activation and defects in these components supported the autosomal recessive CGD forms

1986 Royer-Pokora et al.

Cloning the CYBB gene supporting the XCGD

1988 Parkos et al.

Cloning the CYBA gene encoding p22phox

1988-1989 Nunoi et al, Volpp et al, Leto et al.

Cloning of the NCF1 and NCF2 genes encoding p47phox and p67phox respectively (AR CGD)

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  Directeur de publication:  Marie-José Stasia   Webmaster:   Marie-Claire Dagher  Last update:  February, 25, 2009