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Monogenic defects in lymphocyte apoptosis.
MedLine Citation:
PMID:  22918222     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
PURPOSE OF REVIEW: The recognition that apoptosis - programmed cell death - is an important mechanism in immune homeostasis has led to the identification of human disorders associated with defects in the critical control mechanism. RECENT FINDINGS: Patients have been identified with defects affecting the extrinsic apoptotic pathway mediated by the protein receptor FAS which results in the autoimmune lymphoproliferative syndrome and more recently in defects affecting the intrinsic apoptotic pathway mediated by RAS proteins resulting in the RAS-associated autoimmune leukoproliferative disorder. This review summarizes the immunopathogenesis, clinical features and diagnostic approaches to these human disorders. SUMMARY: Apoptotic pathways are critical in the maintenance of leukocyte homeostasis, and genetic defects impacting these can result in clinical disease manifested as expansion of selected leukocyte populations, autoimmunity, increased risk for malignancy and in some situations defects in host defense.
Authors:
Thomas A Fleisher; Joao Bosco Oliveira
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-8-22
Journal Detail:
Title:  Current opinion in allergy and clinical immunology     Volume:  -     ISSN:  1473-6322     ISO Abbreviation:  Curr Opin Allergy Clin Immunol     Publication Date:  2012 Aug 
Date Detail:
Created Date:  2012-8-24     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:  -    
Affiliation:
NIH Clinical Center, National Institutes of Health, Bethesda, Maryland, USA.
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