Two different forms of inherited human TCRα chain deficiency.

ABSTRACT: Genetic defects that result in the absence of all T cells, including both αβ and γδ T cells, are classified as severe combined immunodeficiency (SCID), a life-threatening condition requiring immediate hematopoietic stem cell transplantation (HSCT) in affected newborns. Previously, patients with a homozygous c.*+1G>A splice variant in the constant chain (TRAC) of the T cell receptor (TCR) α were found to lack only αβ T cells and demonstrated longer survival compared to SCID patients lacking both αβ and γδ T cells. This observation suggested that γδ T cells might partially compensate for the absence of αβ T cells. Here, we describe two children with biallelic premature stop codons in TRAC. These mutations result in a complete loss of TCRαβ expression on the cell surface and an absence

SUBMITTER: Materna M 

PROVIDER: S-EPMC12526356 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature