X-linked lymphoproliferative disease (XLP): a model of impaired anti-viral, anti-tumor and humoral immune responses.


Journal Article (Review)

A major focus of our research is to understand the molecular and cellular basis of X-linked lymphoproliferative disease (XLP), a rare and often fatal immunodeficiency caused by mutations in the SH2D1A gene, which encodes the adaptor molecule SAP. Recently, we observed that SAP is essential for the development of natural killer T (NKT) cells, a lymphocyte population that participates in protection against certain tumors, infections, and autoimmune states. In this review, we describe the approaches that we are taking to understand the role of SAP in immune cells, including NKT cells. By using SAP as the focal point of our studies, we hope to identify novel signaling pathways that could be targeted to improve the treatment for patients with XLP as well as more common disorders, such as autoimmunity and cancer.

Full Text

Duke Authors

Cited Authors

  • Bassiri, H; Janice Yeo, WC; Rothman, J; Koretzky, GA; Nichols, KE

Published Date

  • 2008

Published In

Volume / Issue

  • 42 / 1-3

Start / End Page

  • 145 - 159

PubMed ID

  • 18815745

Pubmed Central ID

  • 18815745

International Standard Serial Number (ISSN)

  • 0257-277X

Digital Object Identifier (DOI)

  • 10.1007/s12026-008-8048-7


  • eng

Conference Location

  • United States