THYMIC INBORN ERRORS OF IMMUNITY.
AIRE
CHD7
EXTL3
FOXI3
FOXN1
NFKB2
PAX1
T cell lymphopenia
TBX1
inborn errors of immunity
thymic development
thymic stroma
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:
18 Oct 2024
18 Oct 2024
Historique:
received:
04
09
2024
revised:
08
10
2024
accepted:
11
10
2024
medline:
21
10
2024
pubmed:
21
10
2024
entrez:
20
10
2024
Statut:
aheadofprint
Résumé
The thymus is crucial for optimal T cell development by facilitating the generation and selection of a diverse repertoire of T cells that can recognize foreign antigens while promoting tolerance to self-antigens. A number of inborn errors of immunity (IEI) causing complete or partial defects in thymic development (athymia) and/or impaired thymic function have been increasingly recognized that manifest clinically with a combination of life-threatening infections, severe multiorgan autoimmunity, and/or cardiac, cranio-facial, ectodermal, and endocrine abnormalities. The introduction of newborn screening programs and the advent of thymic transplantation show promise for early detection and improving the outcomes of patients with certain thymic IEI. Herein, we discuss our current understanding of the genetics, immunopathogenesis, diagnosis, and treatment of IEI that impair thymic development and/or function.
Identifiants
pubmed: 39428079
pii: S0091-6749(24)01066-2
doi: 10.1016/j.jaci.2024.10.009
pii:
doi:
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
Copyright © 2024. Published by Elsevier Inc.