Altered lymphocyte responses and cytokine production in mice deficient in the X-linked lymphoproliferative disease gene SH2D1A/DSHP/SAP

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Impaired Ig class switch in mice deficient for the X-linked lymphoproliferative disease gene Sap.

X-linked lymphoproliferative disease (XLP) is characterized by abnormal immune responses to Epstein-Barr virus attributed to inactivating mutations of the SAP gene. Previous studies showed immunoglobulin E (IgE) deficiency and low serum IgG levels in Sap-deficient mice before and after viral infections, which are associated with impaired CD4+ T-helper function. In the present work, we find that...

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X-Linked Lymphoproliferative Disease

2B4 is a surface molecule involved in activation of the natural killer (NK) cell-mediated cytotoxicity. It binds a protein termed Src homology 2 domain-containing protein (SH2D1A) or signaling lymphocyte activation molecule (SLAM)-associated protein (SAP), which in turn has been proposed to function as a regulator of the 2B4-associated signal transduction pathway. In this study, we analyzed pat...

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Lymphocytic vasculitis in X-linked lymphoproliferative disease.

Systemic vasculitis is an uncommon manifestation of X-linked lymphoproliferative disease (XLP), a disorder in which there is a selective immune deficiency to Epstein-Barr virus (EBV). The molecular basis for XLP has recently been ascribed to mutations within SLAM-associated protein (SAP), an SH2 domain-containing protein expressed primarily in T cells. The authors describe a patient who died as...

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Deficient natural killer cell activity in x-linked lymphoproliferative syndrome.

The activity of natural killer cells was found to be deficient in 10 of 12 males with X-linked lymphoproliferative syndrome, a life-threatening proliferation of lymphocytes after infection by Epstein-Barr virus. The activity levels of natural killer cells from affected males were increased after treatment with interferon in vitro, but normal levels of killing were not obtained. Deficient activi...

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ژورنال

عنوان ژورنال: Proceedings of the National Academy of Sciences

سال: 2001

ISSN: 0027-8424,1091-6490

DOI: 10.1073/pnas.131193098