Natural killer T cells and X-linked lymphoproliferative... : Current Opinion in Allergy and Clinical Immunology (original) (raw)
Primary immune deficiency disease: Edited by Luigi D. Notarangelo and Thomas Fleisher
INSERM U768, Hôpital Necker-Enfants Malades, Paris, France
Correspondence to Sylvain Latour, INSERM U768, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75015 Paris, France Tel: +33 1 44 49 50 51; e-mail: [email protected]
Abstract
Purpose of review
Recent progress in elucidating the physiopathology of X-linked lymphoproliferative syndrome (XLP) has raised novel and important issues regarding the biology of natural killer T cells. Here I will review this information and discuss the issues involved.
Recent findings
XLP is a rare inherited immunodeficiency characterized by a high susceptibility to severe infection by the Epstein–Barr virus. Mutations in the gene SH2D1A (or alternatively SAP) underlie 80% of familial XLP (XLP-1) cases. Recently the remaining 20% of familial XLP (XLP-2) cases were shown to harbor mutations in the gene XIAP (X-linked inhibitor of apoptosis protein). Both SAP and XIAP deficiencies are associated with a defect in the development and/or homeostasis of natural killer T cells.
Summary
It can be hypothesized that the susceptibility to Epstein–Barr virus in XLP might result from the defect of natural killer T cells. The role of these cells in viral infection is unclear, but several herpes viruses have developed strategies to escape natural killer T cells. The discovery that SAP and XIAP deficiency leads to a defect in natural killer T cells has also shed light on novel signaling pathways required for natural killer T cell development and/or homeostasis.
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