Latour Sylvain, Aguilar Claire
Laboratory of "Lymphocyte Activation and Susceptibility to EBV Infection", Inserm UMR 1163, University Paris Descartes Sorbonne Paris Cité, Institut Imagine, Paris, France.
Laboratory of "Lymphocyte Activation and Susceptibility to EBV Infection", Inserm UMR 1163, University Paris Descartes Sorbonne Paris Cité, Institut Imagine, Paris, France.
Semin Cell Dev Biol. 2015 Mar;39:115-23. doi: 10.1016/j.semcdb.2015.01.015. Epub 2015 Feb 7.
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.
X连锁凋亡抑制蛋白（XIAP）缺陷，也称为2型X连锁淋巴增殖性综合征（XLP - 2），是一种罕见的原发性免疫缺陷病。XIAP缺陷的特征是关键的三联临床症状，包括极易发生常由爱泼斯坦 - 巴尔病毒（EBV）感染引发的噬血细胞性淋巴组织细胞增生症（HLH）、反复脾肿大以及具有克罗恩病特征的炎症性肠病（IBD）。XIAP缺陷可被视为遗传性IBD的遗传病因之一。XIAP是一种抗凋亡分子，但它也参与许多其他途径。最近的研究结果表明XIAP在先天免疫和炎症的负调控中发挥作用。在本综述中，我们重点关注XIAP缺陷的临床方面、分子病因及免疫发病机制。我们还讨论了在理解XIAP功能与XLP - 2病理生理学关系方面的最新进展。
