title: XIAP deficiency syndrome in humans.
abstract: The X-linked inhibitor of apoptosis (XIAP) deficiency, also known as the X-linked lymphoproliferative syndrome type 2 (XLP-2), is a rare primary immunodeficiency. XIAP deficiency is characterized by a key triad of clinical manisfestations, which consist of a high susceptibility to develop hemophagocytic lymphohistiocytosis (HLH) frequently triggered by Epstein-Barr virus (EBV) infection, recurrent splenomegaly and inflammatory bowel disease (IBD) with the features of a Crohn's disease. XIAP deficiency can be considered as one of the genetic causes for inherited IBD. XIAP is an anti-apoptotic molecule, but it is also involved in many other pathways. Recent findings demonstrate the role of XIAP in innate immunity and in the negative regulation of inflammation. In this review, we focus on the clinical aspects, the molecular etiology and the immunopathogenesis of XIAP deficiency. We also discuss recent progress in the understanding of XIAP function in relation to the pathophysiology of XLP-2.
authors: Laboratory of "Lymphocyte Activation and Susceptibility to EBV Infection", Inserm UMR 1163, University Paris Descartes Sorbonne Paris Cité, Institut Imagine, Paris, France. Electronic address: sylvain.latour@inserm.fr.
authors: Sylvain
authors: S
authors: Latour
authors: Laboratory of "Lymphocyte Activation and Susceptibility to EBV Infection", Inserm UMR 1163, University Paris Descartes Sorbonne Paris Cité, Institut Imagine, Paris, France.
authors: Claire
authors: C
authors: Aguilar
mesh_terms: D000818:Animals; D040181:Genetic Diseases, X-Linked / Q000276:immunology* / Q000473:pathology*; D006801:Humans; D007113:Immunity, Innate; D007249:Inflammation / Q000276:immunology; D008232:Lymphoproliferative Disorders / Q000276:immunology* / Q000473:pathology*; D051636:X-Linked Inhibitor of Apoptosis Protein / Q000235:genetics*
chemical_list: D051636:X-Linked Inhibitor of Apoptosis Protein; C496866:XIAP protein, human
keywords: HLH/hemophagocytic lymphohistiocytosis; IBD/inflammatory bowel disease; Immunodeficiency; Inflammation; Innate immunity; XIAP/X-linked inhibitor of apoptosis