Dual T cell- and B cell-intrinsic deficiency in humans with biallelic RLTPR mutations.

ABSTRACT: Combined immunodeficiency (CID) refers to inborn errors of human T cells that also affect B cells because of the T cell deficit or an additional B cell-intrinsic deficit. In this study, we report six patients from three unrelated families with biallelic loss-of-function mutations in RLTPR, the mouse orthologue of which is essential for CD28 signaling. The patients have cutaneous and pulmonary allergy, as well as a variety of bacterial and fungal infectious diseases, including invasive tuberculosis and mucocutaneous candidiasis. Proportions of circulating regulatory T cells and memory CD4⁺ T cells are reduced. Their CD4⁺ T cells do not respond to CD28 stimulation. Their CD4⁺ T cells exhibit a "Th2" cell bias ex vivo and when cultured in vitro, contrasting wi

SUBMITTER: Wang Y 

PROVIDER: S-EPMC5068239 | biostudies-literature | 2016 Oct

REPOSITORIES: biostudies-literature