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Current Opinion in Allergy & Clinical Immunology:
doi: 10.1097/ACI.0000000000000008
PRIMARY IMMUNE DEFICIENCY DISEASE: Edited by Ramsay L. Fuleihan and Bruce D. Mazer

X-linked lymphoproliferative syndromes and related autosomal recessive disorders

Veillette, Andréa,b,c; Pérez-Quintero, Luis-Albertoa,c; Latour, Sylvaind

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Abstract

Purpose of review

X-linked lymphoproliferative (XLP) syndromes and related autosomal disorders are severe primary immune deficiencies triggered by infection with Epstein–Barr virus (EBV), the causative agent of infectious mononucleosis. Recent findings reviewed herein provided key new insights into the genetic and immunological basis of these diseases. They also improved our comprehension of the immunological mechanisms controlling EBV infection.

Recent findings

Mutations of an X-linked gene, SH2D1A, which encodes the signaling lymphocytic activation molecule (SLAM)-associated protein (SAP), are responsible for most cases of XLP disorders. More recently, other genetic causes for XLP syndromes and autosomal recessive variants of this disease were elucidated. Mutations in genes such as XIAP, ITK, and CD27 were identified. The clinical manifestations and immunological defects seen in these patients were characterized.

Summary

The similarities and differences in immunological defects and clinical manifestations between XLP syndromes and related autosomal recessive disorders enabled important new insights into the pathogenesis of these diseases. They also helped our comprehension of the mechanisms implicated in the control of EBV infection. They suggested that CD8+ T cells, natural killer (NK) cells, and NKT cells are critically involved.

© 2013 Wolters Kluwer Health | Lippincott Williams & Wilkins

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