Patients with X-linked lymphoproliferative disease due to BIRC4 mutation have normal invariant natural killer T-cell populations

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Patients with X-linked lymphoproliferative disease due to BIRC4 mutation have normal invariant natural killer T-cell populations.

Human invariant natural killer T cells (iNKT cells) are a unique population of T cells that express an invariantly rearranged T-cell receptor (TCR) composed of TCRValpha24 and TCRVbeta11 chains which recognize glycosphingolipid antigens presented by the CD1d molecule. iNKT cells are absent in patients with X-linked lymphoproliferative disease (XLP) due to SH2D1A mutation, and are reported to be...

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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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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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Invariant Natural Killer T Cells

Invariant Natural killer T cell (iNKT cells) are a subset of T cells, which are narrowly defined as a T cell lineage expressing a semi-invariant CD1d-restricted T cell Receptors (TCRs) composed by Vα24-Jα18/Vβ11 in human, and Vα14-Jα18/Vβ8,Vβ7, and Vβ2 in mouse. Unlike conventional T cells which recognize peptides bound to highly polymorphic major histocompatibility complex (MHC) class I and II...

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Defective Invariant Natural Killer T-Cell Suppression in Patients With Type 1 Diabetes.

Type 1 diabetes (T1D) results from gradual alteration of insulin-secreting pancreatic b-cells. When most b-cells are destroyed and/or nonfunctional, patients are unable to regulate hyperglycemia and clinical signs appear (1). Although T cells play a key role in b-cell destruction, other immune cells are also involved in T1D physiopathology (2). Both Foxp3 regulatory T cells (Tregs) and invarian...

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ژورنال

عنوان ژورنال: Clinical Immunology

سال: 2009

ISSN: 1521-6616

DOI: 10.1016/j.clim.2009.03.517