Sökning: WFRF:(Gallin John I.) > (2021) > Hematologically imp...
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000 | 05513naa a2200757 4500 | |
001 | oai:lup.lub.lu.se:3b629163-d689-44cf-96b4-1c8c0eb26eb8 | |
003 | SwePub | |
008 | 211222s2021 | |||||||||||000 ||eng| | |
024 | 7 | a https://lup.lub.lu.se/record/3b629163-d689-44cf-96b4-1c8c0eb26eb82 URI |
024 | 7 | a https://doi.org/10.1016/j.bcmd.2021.1025962 DOI |
040 | a (SwePub)lu | |
041 | a engb eng | |
042 | 9 SwePub | |
072 | 7 | a art2 swepub-publicationtype |
072 | 7 | a ref2 swepub-contenttype |
100 | 1 | a Roos, Dirku Academic Medical Center of University of Amsterdam (AMC)4 aut |
245 | 1 0 | a Hematologically important mutations : The autosomal forms of chronic granulomatous disease (third update) |
264 | 1 | b Elsevier BV,c 2021 |
520 | a 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. | |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Immunologi inom det medicinska området0 (SwePub)301102 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Immunology in the medical area0 (SwePub)301102 hsv//eng |
653 | a Autosomal recessive | |
653 | a Chronic granulomatous disease | |
653 | a Mutation | |
653 | a NADPH oxidase | |
653 | a Polymorphism | |
700 | 1 | a van Leeuwen, Karinu Academic Medical Center of University of Amsterdam (AMC)4 aut |
700 | 1 | a Hsu, Amy P.u National Institute of Allergy and Infectious Diseases4 aut |
700 | 1 | a Priel, Debra Longu National Cancer Institute at Frederick4 aut |
700 | 1 | a Begtrup, Amber4 aut |
700 | 1 | a Brandon, Rhonda4 aut |
700 | 1 | a Rawat, Amitu Postgraduate Institute of Medical Education and Research4 aut |
700 | 1 | a Vignesh, Pandiarajanu Postgraduate Institute of Medical Education and Research4 aut |
700 | 1 | a Madkaikar, Manesha4 aut |
700 | 1 | a Stasia, Marie Joséu University Grenoble Alpes4 aut |
700 | 1 | a Bakri, Faris Ghalibu University of Jordan4 aut |
700 | 1 | a de Boer, Martinu Academic Medical Center of University of Amsterdam (AMC)4 aut |
700 | 1 | a Roesler, Joachim4 aut |
700 | 1 | a Köker, Nezihe4 aut |
700 | 1 | a Köker, M. Yavuz4 aut |
700 | 1 | a Jakobsen, Marianneu Odense University Hospital4 aut |
700 | 1 | a Bustamante, Jacintau Institut Gustave Roussy4 aut |
700 | 1 | a Garcia-Morato, Maria Bravou University Hospital La Paz4 aut |
700 | 1 | a Shephard, Juan Luis Valdiviesou University Hospital La Paz4 aut |
700 | 1 | a Cagdas, Denizu Hacettepe University4 aut |
700 | 1 | a Tezcan, Ilhanu Hacettepe University4 aut |
700 | 1 | a Sherkat, Roya4 aut |
700 | 1 | a Mortaz, Esmaeil4 aut |
700 | 1 | a Fayezi, Abbasu Ahvaz Jundishapur University of Medical Sciences4 aut |
700 | 1 | a Shahrooei, Mohammadu Catholic University of Leuven4 aut |
700 | 1 | a Wolach, Baruchu Meir Medical Center4 aut |
700 | 1 | a Blancas-Galicia, Lizbethu National Institute Of Pediatrics, Mexico4 aut |
700 | 1 | a Kanegane, Hirokazu4 aut |
700 | 1 | a Kawai, Toshinaou National Center for Child Health and Development4 aut |
700 | 1 | a Condino-Neto, Antoniou University of São Paulo4 aut |
700 | 1 | a Vihinen, Maunou Lund University,Lunds universitet,Proteinbioinformatik,Forskargrupper vid Lunds universitet,Protein Bioinformatics,Lund University Research Groups4 aut0 (Swepub:lu)med-mnv |
700 | 1 | a Zerbe, Christa S.u National Institute of Allergy and Infectious Diseases4 aut |
700 | 1 | a Holland, Steven M.u National Institute of Allergy and Infectious Diseases4 aut |
700 | 1 | a Malech, Harry L.u National Institute of Allergy and Infectious Diseases4 aut |
700 | 1 | a Gallin, John I.u National Institute of Allergy and Infectious Diseases4 aut |
700 | 1 | a Kuhns, Douglas B.u National Cancer Institute at Frederick4 aut |
710 | 2 | a Academic Medical Center of University of Amsterdam (AMC)b National Institute of Allergy and Infectious Diseases4 org |
773 | 0 | t Blood Cells, Molecules, and Diseasesd : Elsevier BVg 92q 92x 1079-9796 |
856 | 4 | u http://dx.doi.org/10.1016/j.bcmd.2021.102596y FULLTEXT |
856 | 4 8 | u https://lup.lub.lu.se/record/3b629163-d689-44cf-96b4-1c8c0eb26eb8 |
856 | 4 8 | u https://doi.org/10.1016/j.bcmd.2021.102596 |
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