Document Detail

Autoimmune lymphoproliferative syndrome.
MedLine Citation:
PMID:  12819469     Owner:  NLM     Status:  MEDLINE    
Autoimmune lymphoproliferative syndrome arises early in childhood in people who inherit mutations in genes that mediate lymphocyte apoptosis, or programmed cell death. In the immune system, antigen-induced lymphocyte apoptosis maintains immune homeostasis by limiting lymphocyte accumulation and minimizing reactions against self-antigens. In autoimmune lymphoproliferative syndrome, defective lymphocyte apoptosis manifests as chronic, nonmalignant adenopathy and splenomegaly; the expansion of an unusual population of CD4-CD8- T cells; and the development of autoimmune disease. Most cases of autoimmune lymphoproliferative syndrome involve heterozygous mutations in the lymphocyte surface protein Fas (CD95, Apo1) that impair a major apoptotic pathway. Prospective evaluations of patients and their families have revealed an ever-expanding spectrum of autoimmune lymphoproliferative syndrome and its major complications.
Michael C Sneller; Janet K Dale; Stephen E Straus
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Current opinion in rheumatology     Volume:  15     ISSN:  1040-8711     ISO Abbreviation:  Curr Opin Rheumatol     Publication Date:  2003 Jul 
Date Detail:
Created Date:  2003-06-23     Completed Date:  2003-10-28     Revised Date:  2005-11-16    
Medline Journal Info:
Nlm Unique ID:  9000851     Medline TA:  Curr Opin Rheumatol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  417-21     Citation Subset:  IM    
Immunologic Diseases Section, Laboratory of Immunoregulation, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA.
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MeSH Terms
Apoptosis / genetics,  immunology
Autoimmune Diseases / genetics,  immunology,  pathology*
Lymphoproliferative Disorders / genetics,  immunology,  pathology*

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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