Germline STAT3 gain-of-function mutations in primary immunodeficiency: Impact on the cellular and clinical phenotype.
Autoimmunity
Inborn errors of immunity
Lymphoproliferation
STAT3 GOF
T cell
Journal
Biomedical journal
ISSN: 2320-2890
Titre abrégé: Biomed J
Pays: United States
ID NLM: 101599820
Informations de publication
Date de publication:
08 2021
08 2021
Historique:
received:
19
02
2021
revised:
11
03
2021
accepted:
16
03
2021
pubmed:
10
8
2021
medline:
21
10
2021
entrez:
9
8
2021
Statut:
ppublish
Résumé
Signal transducer and activator of transcription 3 (STAT3) is a key transcription factor involved in regulation of immune cell activation and differentiation. Recent discoveries highlight the role of germline activating STAT3 mutations in inborn errors of immunity characterized by early-onset multi-organ autoimmunity and lymphoproliferation. Much progress has been made in defining the clinical spectrum of STAT3 GOF disease and unraveling the molecular and cellular mechanisms underlying this disease. In this review, we summarize our current understanding of the disease and discuss the clinical phenotype, diagnostic approach, cellular and molecular effects of STAT3 GOF mutations and therapeutic concepts for these patients.
Identifiants
pubmed: 34366294
pii: S2319-4170(21)00017-2
doi: 10.1016/j.bj.2021.03.003
pmc: PMC8514798
pii:
doi:
Substances chimiques
STAT3 Transcription Factor
0
STAT3 protein, human
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
412-421Informations de copyright
Copyright © 2021 Chang Gung University. Published by Elsevier B.V. All rights reserved.
Déclaration de conflit d'intérêts
Conflicts of interest The authors declare no conflicts of interest.
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