Hematologically important mutations: X-linked chronic granulomatous disease (fourth update).
СтатьяResearch Support, N.I.H., IntramuralОбзорНазвание и аннотация: Перевод пока не подготовлен
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Roos Dirk, van Leeuwen Karin, Hsu Amy P, Priel Debra Long, Begtrup Amber, Brandon Rhonda, Stasia Marie José, Bakri Faris Ghalib, Köker Nezihe, Köker M Yavuz, Madkaika Manisha, de Boer Martin, Garcia-Morato Maria Bravo, Shephard Juan Luis Valdivieso, Roesler Joachim, Kanegane Hirokazu, Kawai Toshinao, Di Matteo Gigliola, Shahrooei Mohammad, Bustamante Jacinta, Rawat Amit, Vignesh Pandiarajan, Mortaz Esmaeil, Fayezi Abbas, Cagdas Deniz, Tezcan Ilhan, Kitcharoensakkul Maleewan, Dinauer Mary C, Meyts Isabelle, Wolach Baruch, Condino-Neto Antonio, Zerbe Christa S, Holland Steven M, Malech Harry L, Gallin John I, Kuhns Douglas B
Аннотация
Chronic granulomatous disease (CGD) is an immunodeficiency disorder affecting about 1 in 250,000 individuals. CGD patients suffer from severe bacterial and fungal infections. The disease is caused by a lack of superoxide production by the leukocyte enzyme NADPH oxidase. Superoxide and subsequently formed other reactive oxygen species (ROS) are instrumental in killing phagocytosed micro-organisms in neutrophils, eosinophils, monocytes and macrophages. The leukocyte NADPH oxidase is composed of five subunits, of which the enzymatic component is gp91phox, 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 in Europe and in about 20% in countries with a high ratio of parental consanguinity. This article lists all mutations identified in CYBB and should therefore help in genetic counseling of X-CGD patients' families. Moreover, apparently benign polymorphisms in CYBB are also given, which should facilitate the recognition of disease-causing mutations. In addition, we also include some mutations in G6PD, the gene on the X chromosome that encodes glucose-6-phosphate dehydrogenase, because inactivity of this enzyme may lead to shortage of NADPH and thus to insufficient activity of NADPH oxidase. Severe G6PD deficiency can induce CGD-like symptoms.