Document Detail

X-linked lymphoproliferative syndromes and related autosomal recessive disorders.
MedLine Citation:
PMID:  24113228     Owner:  NLM     Status:  Publisher    
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.
André Veillette; Luis-Alberto Pérez-Quintero; Sylvain Latour
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2013-10-9
Journal Detail:
Title:  Current opinion in allergy and clinical immunology     Volume:  -     ISSN:  1473-6322     ISO Abbreviation:  Curr Opin Allergy Clin Immunol     Publication Date:  2013 Oct 
Date Detail:
Created Date:  2013-10-11     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  100936359     Medline TA:  Curr Opin Allergy Clin Immunol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
aLaboratory of Molecular Oncology, Clinical Research Institute of Montréal bDepartment of Medicine, University of Montréal cDepartment of Medicine, McGill University, Montréal, Québec, Canada dUnité INSERM 768, Laboratoire du Développement Normal et Pathologique du Système Immunitaire, Hôpital Necker Enfants-Malades, Paris, France.
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