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Article Dans Une Revue Blood Cells, Molecules and Diseases Année : 2021

Hematologically important mutations: The autosomal forms of chronic granulomatous disease (third update)

Dirk Roos
  • Fonction : Auteur
Martin de Boer
  • Fonction : Auteur
Nezihe Köker
  • Fonction : Auteur
Maria Bravo Garcia-Morato
  • Fonction : Auteur
Juan Luis Valdivieso Shephard
  • Fonction : Auteur
Deniz Cagdas
  • Fonction : Auteur
Ilhan Tezcan
  • Fonction : Auteur
Roya Sherkat
  • Fonction : Auteur
Esmaeil Mortaz
  • Fonction : Auteur
Abbas Fayezi
  • Fonction : Auteur
Mohammad Shahrooei
Baruch Wolach
  • Fonction : Auteur
Lizbeth Blancas-Galicia
  • Fonction : Auteur
Hirokazu Kanegane
  • Fonction : Auteur
Toshinao Kawai
  • Fonction : Auteur
Antonio Condino-Neto
Mauno Vihinen
  • Fonction : Auteur
Christa Zerbe
  • Fonction : Auteur
Steven Holland
Harry Malech
  • Fonction : Auteur
John Gallin
  • Fonction : Auteur
Douglas Kuhns
  • Fonction : Auteur

Résumé

Chronic granulomatous disease (CGD) is an immunodeficiency disorder affecting about 1 in 250,000 individuals. CGD patients suffer from severe, recurrent bacterial and fungal infections. The disease is caused by mutations in the genes encoding the components of the leukocyte NADPH oxidase. This enzyme produces superoxide, which is subsequently metabolized to hydrogen peroxide and other reactive oxygen species (ROS). These products are essential for intracellular killing of pathogens by phagocytic leukocytes (neutrophils, eosinophils, monocytes and macrophages). The leukocyte NADPH oxidase is composed of five subunits, four of which are encoded by autosomal genes. These are CYBA, encoding p22$^{phox}$, NCF1, encoding p47$^{phox}$, NCF2, encoding p67$^{phox}$ and NCF4, encoding p40$^{phox}$. This article lists all mutations identified in these genes in CGD patients. In addition, cytochrome $b_{558}$ chaperone-1 (CYBC1), recently recognized as an essential chaperone protein for the expression of the X-linked NADPH oxidase component gp91$^{phox}$ (also called Nox2), is encoded by the autosomal gene CYBC1. Mutations in this gene also lead to CGD. Finally, RAC2, a small GTPase of the Rho family, is needed for activation of the NADPH oxidase, and mutations in the RAC2 gene therefore also induce CGD-like symptoms. Mutations in these last two genes are also listed in this article.

Dates et versions

hal-03363768 , version 1 (04-10-2021)

Identifiants

Citer

Dirk Roos, Karin van Leeuwen, Amy Hsu, Debra Long Priel, Amber Begtrup, et al.. Hematologically important mutations: The autosomal forms of chronic granulomatous disease (third update). Blood Cells, Molecules and Diseases, 2021, 92, pp.102596. ⟨10.1016/j.bcmd.2021.102596⟩. ⟨hal-03363768⟩
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