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

  1. Author:
    Roos, Dirk
    van Leeuwen, Karin
    Hsu, Amy P
    Long-Priel,Debra
    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,Doug

  2. Author Address

    Sanquin Research, and Landsteiner Laboratory, Amsterdam University Medical Centre, Amsterdam, the Netherlands. Electronic address: d.roos@sanquin.nl., Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, MD, USA., Neutrophil Monitoring Laboratory, Applied/Developmental Research Directorate, Frederick National Laboratory for Cancer Research, Frederick, MD, USA., GeneDx, Gaithersburg, MD, USA., University Grenoble Alpes, CEA, CNRS, IBS, and Centre Hospitalier Universitaire Grenoble Alpes, Chronic Granulomatous Disease Diagnosis and Research Centre (CDiReC), 38000, Grenoble, France., Infectious Diseases and Vaccine Center, University of Jordan, Amman, Jordan., Dept of Immunology, Erciyes University School of Medicine, Kayseri, Turkey; Dept of Pediatrics, Dr. Sami Ulus Maternity and Children 39;s Health and Diseases Training and Research Hospital, Ankara, Turkey., Dept of Immunology, Erciyes University School of Medicine, Kayseri, Turkey., National Institute of Immunohaematology, ICMR, 13th Floor, KEM Hospital Campus, Parel, Mumbai 400012, India., Department of Immunology, La Paz University Hospital, IdiPaz, Madrid, Spain; Center for Biomedical Network Research on Rare Diseases (CIBERER U767), Madrid, Spain., Department of Immunology, La Paz University Hospital, IdiPaz, Madrid, Spain., Dept of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany., Dept of Child Health and Development, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), 1-5-45 Yushima, Bunkyo-ku, Tokyo 113-8519, Japan., Division of Immunology, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo 157-8535, Japan., Dept of Systems Medicine, University of Rome Tor Vergata, and Academic Dept of Pediatrics, Immune and Infectious Diseases Division, Research Unit of Primary Immunodeficiencies, Bambino Ges 249; Children 39;s Hospital, IRCCS, Rome, Italy., Specialized Immunology Laboratory of Dr. Shahrooei, Ahvaz, Iran; Dept of Microbiology and Immunology, Clinical and Diagnostic Immunology, KU Leuven, Leuven, Belgium., Laboratory of Human Genetics of Infectious Diseases, INSERM, U550, Ren 233; Descartes University, Necker Medical School, Paris, France., Paediatric Allergy Immunology Unit, Department of Paediatrics, Advanced Paediatrics Centre, Postgraduate Institute of Medical Education & Research, Chandigarh, India., Dept of Immunology, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Dept of Allergy and Clinical Immunology, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran., Hacettepe University Faculty of Medicine, Department of Pediatrics, Section of Pediatric Immunology, 06100 Ankara, Turkey., Dept. of Pediatrics, Washington University School of Medicine and St. Louis Children 39;s Hospital, St. Louis, MO, USA., Dept of Microbiology, Immunology and Transplantation, UZ Leuven, Laboratory for Inborn Errors of Immunity, KU Leuven, Leuven, Belgium., Dept of Pediatrics and Laboratory for Leukocyte Function, Meir Medical Centre, Kfar Saba, Israel., Dept of Immunology, Institute of Biomedical Sciences, University of S 227;o Paulo, S 227;o Paulo, Brazil.,
    1. Year: 2021
    2. Date: Sep
    3. Epub Date: 2021 06 02
  2. Journal: Blood cells, molecules & diseases
    1. 90
    2. Pages: 102587
  4. Type of Article: Article
  5. Article Number: 102587
  6. 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 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. Copyright © 2021 Elsevier Inc. All rights reserved.

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External Sources

  1. View Full Text
  2. DOI: 10.1016/j.bcmd.2021.102587
  3. PMID: 34175765
  4. View record in Web of Science®
  5. WOS: 000683027700007
  6. PII : S1079-9796(21)00053-X

Library Notes

  1. Fiscal Year: FY2020-2021
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