Defective NKT cell development in mice and humans lacking the adapter SAP, the X-linked lymphoproliferative syndrome gene product

B Pasquier, L Yin, MC Fondanèche… - The Journal of …, 2005 - rupress.org
B Pasquier, L Yin, MC Fondanèche, F Relouzat, C Bloch-Queyrat, N Lambert, A Fischer…
The Journal of experimental medicine, 2005rupress.org
SAP is an adaptor protein expressed in T cells and natural killer cells. It plays a critical role
in immunity, as it is mutated in humans with X-linked lymphoproliferative syndrome (XLP), a
fatal immunodeficiency characterized by an abnormal response to Epstein-Barr virus (EBV)
infection. SAP interacts with the SLAM family receptors and promotes transduction signal
events by these receptors through its capacity to recruit and activate the Src kinase FynT.
Because it has been previously established that FynT is selectively required for the …
SAP is an adaptor protein expressed in T cells and natural killer cells. It plays a critical role in immunity, as it is mutated in humans with X-linked lymphoproliferative syndrome (XLP), a fatal immunodeficiency characterized by an abnormal response to Epstein-Barr virus (EBV) infection. SAP interacts with the SLAM family receptors and promotes transduction signal events by these receptors through its capacity to recruit and activate the Src kinase FynT. Because it has been previously established that FynT is selectively required for the development of NKT cells, we examined NKT cells in SAP-deficient mice and in humans with XLP. In the absence of SAP, the development of NKT cells is severely impaired both in mice and in humans. These results imply that SAP is a potent regulator of NKT cell development. They also identify for the first time a defect in NKT cells associated with a human primary immunodeficiency, revealing a potential role of NKT cells in the immune response to EBV.
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