The immunopathological landscape of human pre-TCRα deficiency: From rare to common variants.
Humans
Autoimmunity
/ genetics
Cell Differentiation
Homozygote
Intraepithelial Lymphocytes
/ immunology
Receptors, Antigen, T-Cell, alpha-beta
/ genetics
Membrane Glycoproteins
/ genetics
Loss of Function Mutation
Lymphocyte Count
Alleles
Infections
/ immunology
Lymphoproliferative Disorders
/ immunology
Pedigree
Male
Female
Middle Aged
Aged
Aged, 80 and over
Journal
Science (New York, N.Y.)
ISSN: 1095-9203
Titre abrégé: Science
Pays: United States
ID NLM: 0404511
Informations de publication
Date de publication:
Mar 2024
Mar 2024
Historique:
medline:
4
3
2024
pubmed:
29
2
2024
entrez:
29
2
2024
Statut:
ppublish
Résumé
We describe humans with rare biallelic loss-of-function
Identifiants
pubmed: 38422122
doi: 10.1126/science.adh4059
doi:
Substances chimiques
Receptors, Antigen, T-Cell, alpha-beta
0
pre-T cell receptor alpha
0
Membrane Glycoproteins
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
eadh4059Subventions
Organisme : NIDDK NIH HHS
ID : R01 DK127044
Pays : United States
Organisme : NCATS NIH HHS
ID : UL1 TR001866
Pays : United States