Lymphopaenia articles from across Nature Portfolio

The repertoire of adaptive immune receptor is generated by V(D)J recombination, somatic rearrangements of V, D and J gene segments, in the respective loci. Here the authors show that the deficiency of Setd2, a histone methyl transfer, impairs V(D)J recombination and induces severe developmental blocks in both T and B lineages.

Erwin Gelfand, Andrew Snow, Joshua Milner and colleagues identify heterozygous CARD11 mutations associated with severe atopic disease in eight individuals from four families. They further show that the mutant CARD11 proteins exhibit both loss-of-function and dominant-interfering activity and that the cellular defects in patient T cells can be partially rescued by supplementing with glutamine.

Boztug and colleagues identify an immunodeficient patient with a deficiency in the guanine-nucleotide-exchange factor RASGRP1. They find that human RASGRP1 is important for the function of T cells, B cells and NK cells and that it has a role in the regulation of the cytoskeleton.

Interleukin-7 (IL-7) induces T cell proliferation and enhances antigen-specific immune responses: attributes that pinpoint its value as a potential therapeutic agent. This Review summarizes preclinical and clinical data on the immunorestorative effects of IL-7 in various pathologies and discusses the conditions for which IL-7 therapy might be of use.

Deficiency in the RASGRP1 guanine-nucleotide-exchange factor leads to a novel primary immunodeficiency with impaired activation and proliferation of T cells and B cells and defective killing by cytotoxic T cells and natural killer cells.

Hyperresponsive WASP-deficient B cells depend on T cells to mediate autoimmunity.