Luigi D. Notarangelo

TL;DR: It is shown that, in patients with X-linked lymphoproliferative disease (XLP), a severe inherited immunodeficiency characterized by critical mutations in the SH2D1A gene and by the inability to control Epstein-Barr virus infections, 2B4 not only fails to transduce triggering signals, but also mediates a sharp inhibition of the NK-mediated cytolysis.

TL;DR: Individual disease categories now need to be analyzed so that disease-specific prognosis may be better understood and the best treatments planned, despite improvements in each group.

TL;DR: Findings show that mutations of the CD40 gene cause an autosomal recessive form of hyper IgM, which is immunologically and clinically undistinguishable from the X-linked form.

TL;DR: Analysis of NK cells derived from patients with X-linked lymphoproliferative disease (XLP) showed that the lack of SH2D1A protein profoundly affects the function not only of 2B4 but also of NTB-A, which appears to play an important role in the inability of XLP-NK cells to kill EBV-infected target cells.

TL;DR: The clinical and immunologic phenotypes of patients bearing mutations in RAGs are more diverse than previously thought and that this variability is related, in part, to the specific type of RAG mutation.