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

Chromosomes, Human, X / genetics Granulomatous Disease, Chronic / genetics Humans Mutation NADPH Oxidase 2 / genetics
CYBB Chronic granulomatous disease G6PD Mutation NADPH oxidase X-linked disease gp91(phox)

Journal

Blood cells, molecules & diseases
ISSN: 1096-0961
Titre abrégé: Blood Cells Mol Dis
Pays: United States
ID NLM: 9509932

Informations de publication

Date de publication:
09 2021
Historique:
received: 27 05 2021
accepted: 28 05 2021
pubmed: 28 6 2021
medline: 1 2 2022
entrez: 27 6 2021
Statut: ppublish

Résumé

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 gp91

Identifiants

DOI: 10.1016/j.bcmd.2021.102587 PMID: 34175765
pubmed: 34175765
pii: S1079-9796(21)00053-X
doi: 10.1016/j.bcmd.2021.102587
pii:
doi:

Substances chimiques

CYBB protein, human EC 1.6.3.-
NADPH Oxidase 2 EC 1.6.3.-

Types de publication

Journal Article Research Support, N.I.H., Intramural Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

102587

Informations de copyright

Copyright © 2021 Elsevier Inc. All rights reserved.

Auteurs

Dirk Roos (D)

Sanquin Research, and Landsteiner Laboratory, Amsterdam University Medical Centre, Amsterdam, the Netherlands. Electronic address: d.roos@sanquin.nl.

Karin van Leeuwen (K)

Sanquin Research, and Landsteiner Laboratory, Amsterdam University Medical Centre, Amsterdam, the Netherlands.

Amy P Hsu (AP)

Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, MD, USA.

Debra Long Priel (DL)

Neutrophil Monitoring Laboratory, Applied/Developmental Research Directorate, Frederick National Laboratory for Cancer Research, Frederick, MD, USA.

Amber Begtrup (A)

GeneDx, Gaithersburg, MD, USA.

Rhonda Brandon (R)

GeneDx, Gaithersburg, MD, USA.

Marie José Stasia (MJ)

University Grenoble Alpes, CEA, CNRS, IBS, and Centre Hospitalier Universitaire Grenoble Alpes, Chronic Granulomatous Disease Diagnosis and Research Centre (CDiReC), 38000, Grenoble, France.

Faris Ghalib Bakri (FG)

Infectious Diseases and Vaccine Center, University of Jordan, Amman, Jordan.

Nezihe Köker (N)

Dept of Immunology, Erciyes University School of Medicine, Kayseri, Turkey; Dept of Pediatrics, Dr. Sami Ulus Maternity and Children's Health and Diseases Training and Research Hospital, Ankara, Turkey.

M Yavuz Köker (MY)

Dept of Immunology, Erciyes University School of Medicine, Kayseri, Turkey.

Manisha Madkaika (M)

National Institute of Immunohaematology, ICMR, 13th Floor, KEM Hospital Campus, Parel, Mumbai 400012, India.

Martin de Boer (M)

Sanquin Research, and Landsteiner Laboratory, Amsterdam University Medical Centre, Amsterdam, the Netherlands.

Maria Bravo Garcia-Morato (MB)

Department of Immunology, La Paz University Hospital, IdiPaz, Madrid, Spain; Center for Biomedical Network Research on Rare Diseases (CIBERER U767), Madrid, Spain.

Juan Luis Valdivieso Shephard (JLV)

Department of Immunology, La Paz University Hospital, IdiPaz, Madrid, Spain.

Joachim Roesler (J)

Dept of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany.

Hirokazu Kanegane (H)

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.

Toshinao Kawai (T)

Division of Immunology, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo 157-8535, Japan.

Gigliola Di Matteo (G)

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 Gesù Children's Hospital, IRCCS, Rome, Italy.

Mohammad Shahrooei (M)

Specialized Immunology Laboratory of Dr. Shahrooei, Ahvaz, Iran; Dept of Microbiology and Immunology, Clinical and Diagnostic Immunology, KU Leuven, Leuven, Belgium.

Jacinta Bustamante (J)

Laboratory of Human Genetics of Infectious Diseases, INSERM, U550, René Descartes University, Necker Medical School, Paris, France.

Amit Rawat (A)

Paediatric Allergy Immunology Unit, Department of Paediatrics, Advanced Paediatrics Centre, Postgraduate Institute of Medical Education & Research, Chandigarh, India.

Pandiarajan Vignesh (P)

Paediatric Allergy Immunology Unit, Department of Paediatrics, Advanced Paediatrics Centre, Postgraduate Institute of Medical Education & Research, Chandigarh, India.

Esmaeil Mortaz (E)

Dept of Immunology, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Abbas Fayezi (A)

Dept of Allergy and Clinical Immunology, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.

Deniz Cagdas (D)

Hacettepe University Faculty of Medicine, Department of Pediatrics, Section of Pediatric Immunology, 06100 Ankara, Turkey.

Ilhan Tezcan (I)

Hacettepe University Faculty of Medicine, Department of Pediatrics, Section of Pediatric Immunology, 06100 Ankara, Turkey.

Maleewan Kitcharoensakkul (M)

Dept. of Pediatrics, Washington University School of Medicine and St. Louis Children's Hospital, St. Louis, MO, USA.

Mary C Dinauer (MC)

Dept. of Pediatrics, Washington University School of Medicine and St. Louis Children's Hospital, St. Louis, MO, USA.

Isabelle Meyts (I)

Dept of Microbiology, Immunology and Transplantation, UZ Leuven, Laboratory for Inborn Errors of Immunity, KU Leuven, Leuven, Belgium.

Baruch Wolach (B)

Dept of Pediatrics and Laboratory for Leukocyte Function, Meir Medical Centre, Kfar Saba, Israel.

Antonio Condino-Neto (A)

Dept of Immunology, Institute of Biomedical Sciences, University of São Paulo, São Paulo, Brazil.

Christa S Zerbe (CS)

Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, MD, USA.

Steven M Holland (SM)

Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, MD, USA.

Harry L Malech (HL)

Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, MD, USA.

John I Gallin (JI)

Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, MD, USA.

Douglas B Kuhns (DB)

Neutrophil Monitoring Laboratory, Applied/Developmental Research Directorate, Frederick National Laboratory for Cancer Research, Frederick, MD, USA.

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Classifications MeSH

questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Chromosomes › Chromosomes sexuels › Chromosome X › Chromosomes X humains › Hematologically important mutations: X-linked...
questionsmedicales.fr › États, signes et symptômes pathologiques › Processus pathologiques › Caractéristiques de la maladie › Maladie chronique › Granulomatose septique chronique › Hematologically important mutations: X-linked...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Hematologically important mutations: X-linked...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Hematologically important mutations: X-linked...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › NADPH oxidase › NADPH Oxidase 2 › Hematologically important mutations: X-linked...