Publications

Publication Search

Search for publications by

XLP: clinical features and molecular etiology due to mutations in SH2D1A encoding SAP

Abstract

X-linked lymphoproliferative disease (XLP) is a rare primary immunodeficiency affecting approximately 1-2 per 1 million males. A key feature of XLP is the exquisite sensitivity of affected individuals to disease induced following EBV infection. However, patients can also develop hypogammaglobulinemia and B-cell lymphoma independently of exposure to EBV. XLP is caused by loss-of function mutations in SH2D1A, which encodes the intracellular adaptor molecule SAP. SAP is predominantly expressed in T cells and NK cells, and functions to regulate signal transduction pathways downstream of the SLAM family of surface receptors to control CD4+ T cell (and by extension B cells), CD8+ T cell and NK cell function, as well as the development of NKT cells. The study of XLP had shed substantial light on the requirements for lymphocyte differentiation and immune regulation, which in turn have the potential to be translated into novel treatments for not only XLP patients but individuals affected by EBV-induced disease, impaired humoral immunity and malignancy.

Type Journal
Authors Tangye, S. G.
Garvan Authors Prof Stuart Tangye
Publisher Name J CLIN IMMUNOL
Published Date 2014-09-30 00:00:00
Published Volume 34
Published Pages 772-779
URL http://www.ncbi.nlm.nih.gov/pubmed/25085526
Status Published in-print