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- W2523359503 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 with the paucity of Th1, Th17, and T follicular helper cells. The patients also display few memory B cells and poor antibody responses. This B cell phenotype does not result solely from the T cell deficiency, as the patients’ B cells fail to activate NF-κB upon B cell receptor (BCR) stimulation. Human RLTPR deficiency is a CID affecting at least the CD28-responsive pathway in T cells and the BCR-responsive pathway in B cells." @default.
- W2523359503 created "2016-09-30" @default.
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- W2523359503 date "2016-09-19" @default.
- W2523359503 modified "2023-10-18" @default.
- W2523359503 title "Dual T cell– and B cell–intrinsic deficiency in humans with biallelic RLTPR mutations" @default.
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