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

Dirk Roos, Karin van Leeuwen, Amy P. Hsu, Debra Long Priel, Amber Begtrup, Rhonda Brandon, Marie José Stasia, Faris Ghalib Bakri, Nezihe Köker, M. Yavuz Köker, Manisha Madkaika, Martin de Boer, Maria Bravo Garcia-Morato, Juan Luis Valdivieso Shephard, Joachim Roesler, Hirokazu Kanegane, Toshinao Kawai, Gigliola Di Matteo, Mohammad Shahrooei, Jacinta BustamanteAmit Rawat, Pandiarajan Vignesh, Esmaeil Mortaz, Abbas Fayezi, Deniz Cagdas, Ilhan Tezcan, Maleewan Kitcharoensakkul, Mary C. Dinauer, Isabelle Meyts, Baruch Wolach, Antonio Condino-Neto, Christa S. Zerbe, Steven M. Holland, Harry L. Malech, John I. Gallin, Douglas B. Kuhns

Research output: Contribution to journalArticlepeer-review

18 Scopus citations


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.

Original languageEnglish
Article number102587
JournalBlood Cells, Molecules, and Diseases
StatePublished - Sep 2021


  • CYBB
  • Chronic granulomatous disease
  • G6PD
  • Mutation
  • NADPH oxidase
  • X-linked disease
  • gp91


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