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SH2D1A, which encodes signaling lymphocyte activation molecule (SLAM)-associated protein (SAP), is altered in patients with X-linked lymphoproliferative disease (XLP), a primary immunodeficiency. SAP-deficient mice infected with lymphocytic choriomeningitis virus had greatly increased numbers of CD8+ and CD4+ interferon-gamma-producing spleen and liver cells compared to wild-type mice. The immune responses of SAP-deficient mice to infection with Leishmania major together with in vitro studies showed that activated SAP-deficient T cells had an impaired ability to differentiate into T helper 2 cells. The aberrant immune responses in SAP-deficient mice show that SAP controls several distinct key T cell signal transduction pathways, which explains in part the complexity of the XLP phenotypes.

Original publication

DOI

10.1038/87713

Type

Journal article

Journal

Nat Immunol

Publication Date

05/2001

Volume

2

Pages

410 - 414

Keywords

Animals, CD4-Positive T-Lymphocytes, CD8-Positive T-Lymphocytes, Carrier Proteins, Cell Differentiation, Cytokines, Immunoglobulin E, Interferon-gamma, Intracellular Signaling Peptides and Proteins, Leishmaniasis, Cutaneous, Liver, Lymphocytic Choriomeningitis, Lymphoproliferative Disorders, Mice, Mice, Mutant Strains, Signal Transduction, Signaling Lymphocytic Activation Molecule Associated Protein, Spleen, T-Lymphocytes, Th2 Cells