Hematologically important mutations: X-linked chronic granulomatous disease (third update).

Dirk Roos (1) , Douglas B. Kuhns , Anne Maddalena , Joachim Roesler (2) , Juan Alvaro Lopez , Tadashi Ariga , Tadej Avcin , Martin de Boer , Jacinta Bustamante (3) , Antonio Condino-Neto (3) , Gigliola Di Matteo , Jianxin He (4, 5) , Harry R. Hill , Steven M. Holland , Caroline Kannengiesser (6) , M Yavuz Köker , Irina Kondratenko , Karin van Leeuwen , Harry L. Malech (7) , László Marodi , Hiroyuki Nunoi , Marie-José Stasia (8) , Anna Maria Ventura , Carl T. Witwer , Baruch Wolach , John I. Gallin

1 Sanquin Research
2 DEPARTMENT OF PEDIATRICS - Department of Pediatrics
3 Laboratory of Human Genetics of Infectious Diseases
4 Department of Surgery
5 Shriners Burns Institute
6 CRB3 - Centre de recherche biomédicale Bichat-Beaujon
7 Laboratory of Host Defenses
8 TheREx

Chronic granulomatous disease (CGD) is an immunodeficiency disorder affecting about 1 in 250,000 individuals. The disease is caused by a lack of superoxide production by the leukocyte enzyme NADPH oxidase. Superoxide is used to kill phagocytosed micro-organisms in neutrophils, eosinophils, monocytes and macrophages. The leukocyte NADPH oxidase is composed of five subunits, of which the enzymatic component is gp91-phox, also called Nox2. This protein is encoded by the CYBB gene on the X chromosome. Mutations in this gene are found in about 70% of all CGD patients. This article lists all mutations identified in CYBB in the X-linked form of CGD. Moreover, apparently benign polymorphisms in CYBB are also given, which should facilitate the recognition of future disease-causing mutations.

Mots clés: gp91phox; Chronic granulomatous disease; Mutation; CYBB; NADPH oxidase; X-linked disease

Domaines: Immunité innée

Dirk Roos, Douglas B. Kuhns, Anne Maddalena, Joachim Roesler, Juan Alvaro Lopez, et al.. Hematologically important mutations: X-linked chronic granulomatous disease (third update).. Blood Cells, Molecules and Diseases, 2010, 45 (3), pp.246-65. ⟨10.1016/j.bcmd.2010.07.012⟩. ⟨hal-00809510⟩