Detection and evolutionary dynamics of somatic FAS variants in autoimmune lymphoproliferative syndrome: Diagnostic implications.
FAS
autoimmune lymphoproliferative syndrome
genetics
inborn errors of immunity
next-generation sequencing
primary immunodeficiencies
somatic mutation
Journal
Frontiers in immunology
ISSN: 1664-3224
Titre abrégé: Front Immunol
Pays: Switzerland
ID NLM: 101560960
Informations de publication
Date de publication:
2022
2022
Historique:
received:
09
08
2022
accepted:
24
10
2022
entrez:
5
12
2022
pubmed:
6
12
2022
medline:
7
12
2022
Statut:
epublish
Résumé
Autoimmune lymphoproliferative syndrome (ALPS) is a rare primary immune disorder characterized by impaired apoptotic homeostasis. The clinical characteristics include lymphoproliferation, autoimmunity (mainly cytopenia), and an increased risk of lymphoma. A distinctive biological feature is accumulation (>2.5%) of an abnormal cell subset composed of TCRαβ
Identifiants
pubmed: 36466883
doi: 10.3389/fimmu.2022.1014984
pmc: PMC9716137
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1014984Informations de copyright
Copyright © 2022 Batlle-Masó, Garcia-Prat, Parra-Martínez, Franco-Jarava, Aguiló-Cucurull, Velasco, Antolín, Rivière, Martín-Nalda, Soler-Palacín, Martínez-Gallo and Colobran.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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