DNA replication-associated inborn errors of immunity.

Humans Immune System Diseases Leukocytes DNA Damage Mutation Genetic Diseases, Inborn
DNA replication developmental delay inborn errors of immunity leukocytes mutation perturbed growth primary immunodeficiency

Journal

The Journal of allergy and clinical immunology
ISSN: 1097-6825
Titre abrégé: J Allergy Clin Immunol
Pays: United States
ID NLM: 1275002

Informations de publication

Date de publication:
02 2023
Historique:
received: 13 09 2022
revised: 08 11 2022
accepted: 09 11 2022
pubmed: 18 11 2022
medline: 8 2 2023
entrez: 17 11 2022
Statut: ppublish

Résumé

Inborn errors of immunity are a heterogeneous group of monogenic immunologic disorders caused by mutations in genes with critical roles in the development, maintenance, or function of the immune system. The genetic basis is frequently a mutation in a gene with restricted expression and/or function in immune cells, leading to an immune disorder. Several classes of inborn errors of immunity, however, result from mutation in genes that are ubiquitously expressed. Despite the genes participating in cellular processes conserved between cell types, immune cells are disproportionally affected, leading to inborn errors of immunity. Mutations in DNA replication, DNA repair, or DNA damage response factors can result in monogenic human disease, some of which are classified as inborn errors of immunity. Genetic defects in the DNA repair machinery are a well-known cause of T

Identifiants

DOI: 10.1016/j.jaci.2022.11.003 PMID: 36395985
pubmed: 36395985
pii: S0091-6749(22)01514-7
doi: 10.1016/j.jaci.2022.11.003
pii:
doi:

Types de publication

Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

345-360

Informations de copyright

Copyright © 2022 The Authors. Published by Elsevier Inc. All rights reserved.

Auteurs

Mathijs Willemsen (M)

Department of Microbiology, Immunology and Transplantation, Laboratory of Adaptive Immunity, KU Leuven, Leuven, Belgium; VIB-KU Leuven Center for Brain and Disease Research, Leuven, Belgium. Electronic address: mathijs.willemsen@kuleuven.be.

Frederik Staels (F)

Department of Microbiology, Immunology and Transplantation, Laboratory of Adaptive Immunity, KU Leuven, Leuven, Belgium; Department of Microbiology, Immunology and Transplantation, Allergy and Clinical Immunology Research Group, KU Leuven, Leuven, Belgium.

Margaux Gerbaux (M)

Department of Microbiology, Immunology and Transplantation, Laboratory of Adaptive Immunity, KU Leuven, Leuven, Belgium; Pediatric Department, Academic Children Hospital Queen Fabiola, Université Libre de Bruxelles, Brussels, Belgium.

Julika Neumann (J)

Department of Microbiology, Immunology and Transplantation, Laboratory of Adaptive Immunity, KU Leuven, Leuven, Belgium; VIB-KU Leuven Center for Brain and Disease Research, Leuven, Belgium.

Rik Schrijvers (R)

Department of Microbiology, Immunology and Transplantation, Allergy and Clinical Immunology Research Group, KU Leuven, Leuven, Belgium; Department of General Internal Medicine, University Hospitals Leuven, Leuven, Belgium.

Isabelle Meyts (I)

Department of Microbiology, Immunology and Transplantation, Laboratory for Inborn Errors of Immunity, KU Leuven, Leuven, Belgium; Department of Pediatrics, Division of Primary Immunodeficiencies, University Hospitals Leuven, Leuven, Belgium; ERN-RITA Core Center Member, Leuven, Belgium.

Stephanie Humblet-Baron (S)

Department of Microbiology, Immunology and Transplantation, Laboratory of Adaptive Immunity, KU Leuven, Leuven, Belgium. Electronic address: stephanie.humbletbaron@kuleuven.be.

Adrian Liston (A)

Department of Microbiology, Immunology and Transplantation, Laboratory of Adaptive Immunity, KU Leuven, Leuven, Belgium; VIB-KU Leuven Center for Brain and Disease Research, Leuven, Belgium; Immunology Program, The Babraham Institute, Babraham Research Campus, Cambridge. Electronic address: al989@cam.ac.uk.

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › DNA replication-associated inborn errors of immunity.
questionsmedicales.fr › Maladies du système immunitaire › DNA replication-associated inborn errors of immunity.
questionsmedicales.fr › Systèmes sanguin et immunitaire › Système immunitaire › Leucocytes › DNA replication-associated inborn errors of immunity.
questionsmedicales.fr › Phénomènes génétiques › Altération de l'ADN › DNA replication-associated inborn errors of immunity.
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › DNA replication-associated inborn errors of immunity.
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › DNA replication-associated inborn errors of immunity.