Hematologically important mutations: The autosomal forms of chronic granulomatous disease (third update)
| Autor: | Amber Begtrup, Mohammad Shahrooei, Deniz Cagdas, Douglas B. Kuhns, Juan Luis Valdivieso Shephard, Nezihe Köker, Joachim Roesler, Amy P. Hsu, Marie José Stasia, Antonio Condino-Neto, Harry L. Malech, Jacinta Bustamante, Esmaeil Mortaz, Ilhan Tezcan, Pandiarajan Vignesh, Baruch Wolach, Dirk Roos, María Bravo García-Morato, Marianne Antonius Jakobsen, Steven M. Holland, Roya Sherkat, Rhonda Brandon, Hirokazu Kanegane, Mauno Vihinen, Faris G. Bakri, Lizbeth Blancas-Galicia, Abbas Fayezi, Amit Rawat, Karin van Leeuwen, John I. Gallin, Toshinao Kawai, M. Yavuz Köker, Christa S. Zerbe, Martin de Boer, Manesha Madkaikar, Debra A. Long Priel |
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| Přispěvatelé: | Sanquin Research, University of Amsterdam [Amsterdam] (UvA), Laboratory of Clinical Infectious Diseases, NIAID, NIH, Bethesda, Maryland, Neutrophil Monitoring Laboratory, Frederick National Laboratory for Cancer Research (FNLCR), GeneDx [Gaithersburg, MD, USA], Postgraduate Institute of Medical Education and Research, Indian Council of Medical Research [New Dehli] (ICMR), Institut de biologie structurale (IBS - UMR 5075), Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche Interdisciplinaire de Grenoble (IRIG), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Grenoble Alpes (UGA), The University of Jordan (JU), University Hospital Carl Gustav Carus [Dresden, Germany], Technische Universität Dresden = Dresden University of Technology (TU Dresden), Erciyes University, Odense University Hospital [Odense, Denmark], Department of Pediatrics, Division of Pediatric Immunology, Faculty of Medicine, Erciyes University, Kayseri, Turkey, Landsteiner Laboratory |
| Rok vydání: | 2021 |
| Předmět: |
Autosomal recessive
medicine.disease_cause Granulomatous Disease Chronic Microbiology 03 medical and health sciences chemistry.chemical_compound 0302 clinical medicine Chronic granulomatous disease medicine Humans Polymorphism Molecular Biology Gene 030304 developmental biology chemistry.chemical_classification 0303 health sciences Mutation Reactive oxygen species NADPH oxidase biology [SDV.BBM.BS]Life Sciences [q-bio]/Biochemistry Molecular Biology/Structural Biology [q-bio.BM] Superoxide HERANÇA GENÉTICA NADPH Oxidases Cell Biology Hematology medicine.disease 3. Good health Enzyme chemistry biology.protein Molecular Medicine P22phox 030215 immunology |
| Zdroj: | Roos, D, van Leeuwen, K, Hsu, A P, Priel, D L, Begtrup, A, Brandon, R, Rawat, A, Vignesh, P, Madkaikar, M, Stasia, M J, Bakri, F G, de Boer, M, Roesler, J, Köker, N, Köker, M Y, Jakobsen, M, Bustamante, J, Garcia-Morato, M B, Shephard, J L V, Cagdas, D, Tezcan, I, Sherkat, R, Mortaz, E, Fayezi, A, Shahrooei, M, Wolach, B, Blancas-Galicia, L, Kanegane, H, Kawai, T, Condino-Neto, A, Vihinen, M, Zerbe, C S, Holland, S M, Malech, H L, Gallin, J I & Kuhns, D B 2021, ' Hematologically important mutations : The autosomal forms of chronic granulomatous disease (third update) ', Blood Cells, Molecules and Diseases, vol. 92, 102596 . https://doi.org/10.1016/j.bcmd.2021.102596 Blood Cells, Molecules and Diseases Blood Cells, Molecules and Diseases, 2021, 92, pp.102596. ⟨10.1016/j.bcmd.2021.102596⟩ Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual) Universidade de São Paulo (USP) instacron:USP Blood Cells, Molecules and Diseases, Elsevier, 2021, 92, pp.102596. ⟨10.1016/j.bcmd.2021.102596⟩ Blood cells, molecules & diseases, 92:102596. Academic Press Inc. |
| ISSN: | 1096-0961 1079-9796 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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