Human inborn errors of the actin cytoskeleton affecting immunity: way beyond WAS and WIP.

Actin Cytoskeleton / genetics Cytoskeletal Proteins / metabolism Humans Immunity / genetics Primary Immunodeficiency Diseases / genetics Wiskott-Aldrich Syndrome Protein / metabolism
Coronin 1A DOCK2-DOCK8 RAC2 cytoskeleton primary immunodeficiency

Journal

Immunology and cell biology
ISSN: 1440-1711
Titre abrégé: Immunol Cell Biol
Pays: United States
ID NLM: 8706300

Informations de publication

Date de publication:
04 2019
Historique:
received: 25 01 2019
accepted: 09 02 2019
pubmed: 20 2 2019
medline: 25 1 2020
entrez: 20 2 2019
Statut: ppublish

Résumé

Inherited defects in genes encoding for proteins that are involved in the assembly and dynamics of the actin skeleton have increasingly been identified in patients presenting with primary immunodeficiencies. In this review, we summarize a subset of the recently described conditions, emphasizing the clinical features as well as the immunophenotype and pathophysiology.

Identifiants

DOI: 10.1111/imcb.12243 PMID: 30779216
pubmed: 30779216
doi: 10.1111/imcb.12243
doi:

Substances chimiques

Cytoskeletal Proteins 0
Wiskott-Aldrich Syndrome Protein 0

Types de publication

Journal Article Research Support, Non-U.S. Gov't Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

389-402

Informations de copyright

© 2019 Australasian Society for Immunology Inc.

Auteurs

Stuart G Tangye (SG)

Immunology Division, Garvan Institute of Medical Research, Sydney, NSW, Australia.
Faculty of Medicine, St Vincent's Clinical School, UNSW Sydney, Sydney, NSW, Australia.
ORCID: 0000-0002-5360-5180

Giorgia Bucciol (G)

Laboratory for Inborn Errors of Immunity, Department of Microbiology and Immunology, KU Leuven, Leuven, Belgium.
Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium.

Jose Casas-Martin (J)

Laboratory for Inborn Errors of Immunity, Department of Microbiology and Immunology, KU Leuven, Leuven, Belgium.

Bethany Pillay (B)

Immunology Division, Garvan Institute of Medical Research, Sydney, NSW, Australia.
Faculty of Medicine, St Vincent's Clinical School, UNSW Sydney, Sydney, NSW, Australia.

Cindy S Ma (CS)

Immunology Division, Garvan Institute of Medical Research, Sydney, NSW, Australia.
Faculty of Medicine, St Vincent's Clinical School, UNSW Sydney, Sydney, NSW, Australia.
ORCID: 0000-0001-5387-8413

Leen Moens (L)

Laboratory for Inborn Errors of Immunity, Department of Microbiology and Immunology, KU Leuven, Leuven, Belgium.

Isabelle Meyts (I)

Laboratory for Inborn Errors of Immunity, Department of Microbiology and Immunology, KU Leuven, Leuven, Belgium.
Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium.
ORCID: 0000-0003-1214-0302

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Classifications MeSH

questionsmedicales.fr › Cellules › Structures cellulaires › Espace intracellulaire › Cytoplasme › Structures cytoplasmiques › Cytosquelette › Cytosquelette d'actine › Human inborn errors of the actin cytoskeleton...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines du cytosquelette › Human inborn errors of the actin cytoskeleton...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Human inborn errors of the actin cytoskeleton...
questionsmedicales.fr › Phénomènes du système immunitaire › Immunité › Human inborn errors of the actin cytoskeleton...
questionsmedicales.fr › Maladies du système immunitaire › Déficits immunitaires › Maladies d'immunodéficience primaire › Human inborn errors of the actin cytoskeleton...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines du cytosquelette › Protéines des microfilaments › Famille de protéines du syndrome de Wiskott-Aldrich › Protéine du syndrome de Wiskott-Aldrich › Human inborn errors of the actin cytoskeleton...