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Science ; 383(6686): eadh4059, 2024 03.
Article in English | MEDLINE | ID: mdl-38422122

ABSTRACT

We describe humans with rare biallelic loss-of-function PTCRA variants impairing pre-α T cell receptor (pre-TCRα) expression. Low circulating naive αß T cell counts at birth persisted over time, with normal memory αß and high γδ T cell counts. Their TCRα repertoire was biased, which suggests that noncanonical thymic differentiation pathways can rescue αß T cell development. Only a minority of these individuals were sick, with infection, lymphoproliferation, and/or autoimmunity. We also report that 1 in 4000 individuals from the Middle East and South Asia are homozygous for a common hypomorphic PTCRA variant. They had normal circulating naive αß T cell counts but high γδ T cell counts. Although residual pre-TCRα expression drove the differentiation of more αß T cells, autoimmune conditions were more frequent in these patients compared with the general population.


Subject(s)
Autoimmunity , Intraepithelial Lymphocytes , Membrane Glycoproteins , Receptors, Antigen, T-Cell, alpha-beta , 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
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