TY - JOUR
T1 - Hematologically important mutations
T2 - X-linked chronic granulomatous disease (fourth update)
AU - Roos, Dirk
AU - van Leeuwen, Karin
AU - Hsu, Amy P.
AU - Priel, Debra Long
AU - Begtrup, Amber
AU - Brandon, Rhonda
AU - Stasia, Marie José
AU - Bakri, Faris Ghalib
AU - Köker, Nezihe
AU - Köker, M. Yavuz
AU - Madkaika, Manisha
AU - de Boer, Martin
AU - Garcia-Morato, Maria Bravo
AU - Shephard, Juan Luis Valdivieso
AU - Roesler, Joachim
AU - Kanegane, Hirokazu
AU - Kawai, Toshinao
AU - Di Matteo, Gigliola
AU - Shahrooei, Mohammad
AU - Bustamante, Jacinta
AU - Rawat, Amit
AU - Vignesh, Pandiarajan
AU - Mortaz, Esmaeil
AU - Fayezi, Abbas
AU - Cagdas, Deniz
AU - Tezcan, Ilhan
AU - Kitcharoensakkul, Maleewan
AU - Dinauer, Mary C.
AU - Meyts, Isabelle
AU - Wolach, Baruch
AU - Condino-Neto, Antonio
AU - Zerbe, Christa S.
AU - Holland, Steven M.
AU - Malech, Harry L.
AU - Gallin, John I.
AU - Kuhns, Douglas B.
N1 - Publisher Copyright:
© 2021 Elsevier Inc.
PY - 2021/9
Y1 - 2021/9
N2 - 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.
AB - 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.
KW - CYBB
KW - Chronic granulomatous disease
KW - G6PD
KW - Mutation
KW - NADPH oxidase
KW - X-linked disease
KW - gp91
UR - http://www.scopus.com/inward/record.url?scp=85106913651&partnerID=8YFLogxK
U2 - 10.1016/j.bcmd.2021.102587
DO - 10.1016/j.bcmd.2021.102587
M3 - Article
C2 - 34175765
AN - SCOPUS:85106913651
SN - 1079-9796
VL - 90
JO - Blood Cells, Molecules, and Diseases
JF - Blood Cells, Molecules, and Diseases
M1 - 102587
ER -