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

  1. Author:
    Roos, Dirk
    van Leeuwen, Karin
    Hsu, Amy P.
    Long-Priel,Debra
    Begtrup, Amber
    Brandon, Rhonda
    Rawat, Amit
    Vignesh, Pandiarajan
    Madkaikar, Manesha
    Stasia, Marie Jose
    Bakri, Faris Ghalib
    de Boer, Martin
    Roesler, Joachim
    Koker, Nezihe
    Koker, M. Yavuz
    Jakobsen, Marianne
    Bustamante, Jacinta
    Bravo Garcia-Morato, Maria
    Valdivieso Shephard, Juan Luis
    Cagdas, Deniz
    Tezcan, Ilhan
    Sherkat, Roya
    Mortaz, Esmaeil
    Fayezi, Abbas
    Shahrooei, Mohammad
    Wolach, Baruch
    Blancas-Galicia, Lizbeth
    Kanegane, Hirokazu
    Kawai, Toshinao
    Condino-Neto, Antonio
    Vihinen, Mauno
    Zerbe, Christa S.
    Holland, Steven M.
    Malech, Harry L.
    Gallin, John
    Kuhns,Doug

  2. Author Address

    Sanquin Res, Plesmanlaan 125, NL-1066 CX Amsterdam, Netherlands.Univ Amsterdam, Acad Med Ctr, Karl Landsteiner Lab, Amsterdam, Netherlands.NIAID, Lab Clin Immunol & Microbiol, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA.Frederick Natl Lab Canc Res, Neutrophil Monitoring Lab, Appl Dev Res Directorate, Frederick, MD USA.GeneDx, Gaithersburg, MD USA.Postgrad Inst Med Educ & Res, Adv Paediat Ctr, Dept Paediat, Paediat Allergy Immunol Unit, Chandigarh, India.ICMR, Natl Inst Immunohaematol, 13th Floor,KEM Hosp Campus, Mumbai 400012, Parel, India.Univ Grenoble Alpes, CEA, CNRS, IBS, F-38000 Grenoble, France.Ctr Hosp Univ Grenoble Alpes, Chron Granulomatous Dis Diag & Res Ctr CDiReC, F-38000 Grenoble, France.Univ Jordan, Infect Dis & Vaccine Ctr, Amman, Jordan.Univ Hosp Carl Gustav Carus, Dept Pediat, Dresden, Germany.Erciyes Univ, Dept Immunol, Sch Med, Kayseri, Turkey.Dr Sami Ulus Matern & Childrens Hlth & Dis Traing, Dept Pediat, Ankara, Turkey.Odense Univ Hosp, Dept Clin Immunol, Odense, Denmark.INSERM, U550, Lab Human Genet Infect Dis, Paris, France.Rene Descartes Univ, Necker Med Sch, Paris, France.La Paz Univ Hosp, Dept Immunol, IdiPaz, Madrid, Spain.Ctr Biomed Network Res Rare Dis CIBERER U767, Madrid, Spain.Hacettepe Univ, Dept Pediat, Sect Pediat Immunol, Fac Med, TR-06100 Ankara, Turkey.Isfahan Univ Med Sci, Acquired Immunodeficiency Res Ctr, Esfahan, Iran.Shahid Beheshti Univ Med Sci, Sch Med, Dept Immunol, Tehran, Iran.Ahvaz Jundishapur Univ Med Sci, Sch Med, Dept Allergy & Clin Immunol, Ahvaz, Iran.Specialized Immunol Lab Dr Shahrooei, Ahvaz, Iran.Dept Microbiol & Immunol, KU Leuven, Clin & Diagnost Immunol, Leuven, Belgium.Meir Med Ctr, Dept Pediat, Kefar Sava, Israel.Meir Med Ctr, Lab Leukocyte Funct, Kefar Sava, Israel.Natl Inst Pediat, Res Unit Immunodeficiencies, Mexico City, DF, Mexico.Tokyo Med & Dent Univ TMDU, Grad Sch Med & Dent Sci, Dept Child Hlth & Dev, Bunkyo Ku, 1-5-45 Yushima, Tokyo 1138519, Japan.Natl Ctr Child Hlth & Dev, Div Immunol, Setagaya Ku, 2-10-1 Okura, Tokyo 1578535, Japan.Univ Sao Paulo, Inst Biomed Sci, Dept Immunol, Sao Paulo, Brazil.Lund Univ, Dept Expt Med Sci, BMC B13, SE-22184 Lund, Sweden.
    1. Year: 2021
    2. Date: Dec
    3. Epub Date: 2021 07 28
  2. Journal: Blood cells, molecules & diseases
  3. ACADEMIC PRESS INC ELSEVIER SCIENCE,
    1. 92
  5. Type of Article: Article
  6. Article Number: 102596
  7. ISSN: 1079-9796
  1. Abstract:

    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.

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  2. DOI: 10.1016/j.bcmd.2021.102596
  3. PMID: 34547651
  4. View record in Web of Science®
  5. WOS: 000697700900002

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  1. Fiscal Year: FY2020-2021
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