V. Koneti Rao

TL;DR: It is demonstrated that most extracellular-region FAS mutations induce low FAS expression due to nonsense-mediated RNA decay or protein instability, resulting in defective death-inducing signaling complex formation and impaired apoptosis, although to a lesser extent as compared with intracellular mutations.

TL;DR: The oral PI3Kδ inhibitor leniolisib reduced lymphadenopathy and normalized immune cell subsets in patients with APDS, an inborn error of immunity as discussed by the authors .

TL;DR: In this article, the authors identified 6 unrelated males with neutropenia, infections, lymphoproliferation, humoral immune defects, and in some cases, bone marrow failure associated with 3 different variants in the X-linked gene TLR8, encoding the endosomal Toll-like receptor 8 (TLR8).

TL;DR: It is shown that a palmitoylation-defective Fas C194V mutant is defective in inducing apoptosis in primary mouse T cells, B cells and dendritic cells, while retaining the ability to enhance naive T-cell differentiation.