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Hematologically imp...
Hematologically important mutations : The autosomal forms of chronic granulomatous disease (third update)
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- Roos, Dirk (author)
- Academic Medical Center of University of Amsterdam (AMC)
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- van Leeuwen, Karin (author)
- Academic Medical Center of University of Amsterdam (AMC)
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- Hsu, Amy P. (author)
- National Institute of Allergy and Infectious Diseases
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- Priel, Debra Long (author)
- National Cancer Institute at Frederick
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Begtrup, Amber (author)
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Brandon, Rhonda (author)
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- Rawat, Amit (author)
- Postgraduate Institute of Medical Education and Research
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- Vignesh, Pandiarajan (author)
- Postgraduate Institute of Medical Education and Research
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Madkaikar, Manesha (author)
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- Stasia, Marie José (author)
- University Grenoble Alpes
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- Bakri, Faris Ghalib (author)
- University of Jordan
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- de Boer, Martin (author)
- Academic Medical Center of University of Amsterdam (AMC)
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Roesler, Joachim (author)
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Köker, Nezihe (author)
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Köker, M. Yavuz (author)
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- Jakobsen, Marianne (author)
- Odense University Hospital
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- Bustamante, Jacinta (author)
- Institut Gustave Roussy
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- Garcia-Morato, Maria Bravo (author)
- University Hospital La Paz
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- Shephard, Juan Luis Valdivieso (author)
- University Hospital La Paz
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- Cagdas, Deniz (author)
- Hacettepe University
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- Tezcan, Ilhan (author)
- Hacettepe University
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Sherkat, Roya (author)
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Mortaz, Esmaeil (author)
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- Fayezi, Abbas (author)
- Ahvaz Jundishapur University of Medical Sciences
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- Shahrooei, Mohammad (author)
- Catholic University of Leuven
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- Wolach, Baruch (author)
- Meir Medical Center
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- Blancas-Galicia, Lizbeth (author)
- National Institute Of Pediatrics, Mexico
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Kanegane, Hirokazu (author)
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- Kawai, Toshinao (author)
- National Center for Child Health and Development
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- Condino-Neto, Antonio (author)
- University of São Paulo
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- Vihinen, Mauno (author)
- Lund University,Lunds universitet,Proteinbioinformatik,Forskargrupper vid Lunds universitet,Protein Bioinformatics,Lund University Research Groups
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- Zerbe, Christa S. (author)
- National Institute of Allergy and Infectious Diseases
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- Holland, Steven M. (author)
- National Institute of Allergy and Infectious Diseases
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- Malech, Harry L. (author)
- National Institute of Allergy and Infectious Diseases
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- Gallin, John I. (author)
- National Institute of Allergy and Infectious Diseases
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- Kuhns, Douglas B. (author)
- National Cancer Institute at Frederick
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(creator_code:org_t)
- Elsevier BV, 2021
- 2021
- English.
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In: Blood Cells, Molecules, and Diseases. - : Elsevier BV. - 1079-9796. ; 92
- Related links:
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http://dx.doi.org/10...
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https://lup.lub.lu.s...
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https://doi.org/10.1...
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Abstract
Subject headings
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- 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 p22phox, NCF1, encoding p47phox, NCF2, encoding p67phox and NCF4, encoding p40phox. This article lists all mutations identified in these genes in CGD patients. In addition, cytochrome b558 chaperone-1 (CYBC1), recently recognized as an essential chaperone protein for the expression of the X-linked NADPH oxidase component gp91phox (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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Immunologi inom det medicinska området (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Immunology in the medical area (hsv//eng)
Keyword
- Autosomal recessive
- Chronic granulomatous disease
- Mutation
- NADPH oxidase
- Polymorphism
Publication and Content Type
- art (subject category)
- ref (subject category)
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- By the author/editor
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Roos, Dirk
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van Leeuwen, Kar ...
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Hsu, Amy P.
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Priel, Debra Lon ...
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Begtrup, Amber
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Brandon, Rhonda
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show more...
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Rawat, Amit
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Vignesh, Pandiar ...
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Madkaikar, Manes ...
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Stasia, Marie Jo ...
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Bakri, Faris Gha ...
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de Boer, Martin
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Roesler, Joachim
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Köker, Nezihe
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Köker, M. Yavuz
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Jakobsen, Marian ...
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Bustamante, Jaci ...
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Garcia-Morato, M ...
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Shephard, Juan L ...
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Cagdas, Deniz
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Tezcan, Ilhan
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Sherkat, Roya
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Mortaz, Esmaeil
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Fayezi, Abbas
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Shahrooei, Moham ...
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Wolach, Baruch
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Blancas-Galicia, ...
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Kanegane, Hiroka ...
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Kawai, Toshinao
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Condino-Neto, An ...
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Vihinen, Mauno
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Zerbe, Christa S ...
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Holland, Steven ...
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Malech, Harry L.
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Gallin, John I.
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Kuhns, Douglas B ...
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Immunology in th ...
- Articles in the publication
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Blood Cells, Mol ...
- By the university
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Lund University