Article
Activation-dependent T cell expression of the X-linked lymphoproliferative disease gene product SLAM-associated protein and its assessment for patient detection.
International immunology - 1 Oct 2002
Shinozaki Kentaro, Kanegane Hirokazu, Matsukura Hiroyoshi, Sumazaki Ryo, Tsuchida Masahiro, Makita Mika, Kimoto Yasuo, Kanai Rie, Tsumura Kumi, Kondoh Tatsuro, Moriuchi Hiroyuki, Miyawaki Toshio
Abstract excerpt
X-linked lymphoproliferative disease (XLP) is an inherited immunodeficiency characterized by extreme vulnerability to Epstein-Barr virus (EBV) infection, resulting in fatal infectious mononucleosis, dysgammaglobulinemia and malignant lymphoma. Recently, mutations in the SH2D1A gene, which encodes SLAM-associated protein (SAP), have been found to cause XLP. Although the molecular events behind XLP are largely...
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