Abnormal T cell receptor signal transduction of CD4 Th cells in X-linked lymphoproliferative syndrome.

The molecular basis of X-linked lymphoproliferative (XLP) disease has been attributed to mutations in the signaling lymphocytic activation molecule-associated protein (SAP), an src homology 2 domain-containing intracellular signaling molecule known to interact with the lymphocyte-activating surface receptors signaling lymphocytic activation molecule and 2B4. To investigate the effect of SAP defects ...
on TCR signal transduction, herpesvirus saimiri-immortalized CD4 Th cells from XLP patients and normal healthy individuals were examined for their response to TCR stimulation. CD4 T cells of XLP patients displayed elevated levels of tyrosine phosphorylation compared with CD4 T cells from healthy individuals. In addition, downstream serine/threonine kinases are constitutively active in CD4 T cells of XLP patients. In contrast, TCR-mediated activation of Akt, c-Jun-NH(2)-terminal kinases, and extracellular signal-regulated kinases in XLP CD4 T cells was transient and rapidly diminished when compared with that in control CD4 T cells. Consequently, XLP CD4 T cells exhibited severe defects in up-regulation of IL-2 and IFN-gamma cytokine production upon TCR stimulation and in MLRs. Finally, SAP specifically interacted with a 75-kDa tyrosine-phosphorylated protein upon TCR stimulation. These results demonstrate that CD4 T cells from XLP patients exhibit aberrant TCR signal transduction and that the defect in SAP function is likely responsible for this phenotype.
Mesh Terms:
Antigens, CD3, Base Sequence, Carrier Proteins, Cell Transformation, Viral, Cells, Cultured, Cytokines, DNA Primers, Herpesvirus 2, Saimiriine, Herpesvirus 4, Human, Humans, Intracellular Signaling Peptides and Proteins, Lymphoproliferative Disorders, Mitogen-Activated Protein Kinases, Mutation, Oncogene Protein v-cbl, Phosphorylation, Protein-Tyrosine Kinases, Receptors, Antigen, T-Cell, Retroviridae Proteins, Oncogenic, Signal Transduction, T-Lymphocytes, Helper-Inducer, Tyrosine, ZAP-70 Protein-Tyrosine Kinase
J. Immunol.
Date: Sep. 01, 2001
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