Characterization of expanded γδ T cells from patient with atypical X-linked severe combined immunodeficiency reveals preserved function and IL2RG-mediated signaling

Abnormally high γδ T cell numbers are common among atypical severe combined immunodeficiency (SCID) patients but detailed immunophenotyping and functional characterization of these expanded γδ T cells are limited. We have previously reported atypical SCID phenotype caused by hypomorphic IL2RG c.172C > T;p.(Pro58Ser) variant causing failure in IL2RG (CD132) plasma membrane targeting leading to impaired IL-2 responses in CD4 and CD8 T cells. Our aim was to investigate the phenotype and function of the index patient's abnormally large peripheral γδ T cell population.