Document Detail


Familial and acquired hemophagocytic lymphohistiocytosis.
MedLine Citation:
PMID:  22248322     Owner:  NLM     Status:  In-Data-Review    
Abstract/OtherAbstract:
Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening syndrome in which an uncontrolled and ineffective immune response, triggered in most cases by infectious agents, leads to severe hyperinflammation. Familial forms of HLH (FHL), which are increasingly found also in adolescents and adults, are due to genetic defects leading to impaired function of natural killer cells and cytotoxic T cells. These mutations occur either in the perforin gene or in genes important for the exocytosis of cytotoxic granules. Cytotoxic granules contain perforin and granzymes, which induce apoptosis upon entering (infected) target cells. Additionally, perforin is important for the downregulation of the immune response. Acquired forms of HLH are encountered in association with (usually) viral infections, autoinflammatory/autoimmune diseases, malignant diseases, and acquired immune deficiency states (e.g., after organ transplantation). Treatment of HLH includes immune-suppressive and immune-modulatory agents, cytostatic drugs, and biological response modifiers. For patients with FHL, stem cell transplantation is indicated and can be curative.
Authors:
G E Janka
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Annual review of medicine     Volume:  63     ISSN:  1545-326X     ISO Abbreviation:  Annu. Rev. Med.     Publication Date:  2012 Feb 
Date Detail:
Created Date:  2012-01-17     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  2985151R     Medline TA:  Annu Rev Med     Country:  United States    
Other Details:
Languages:  eng     Pagination:  233-46     Citation Subset:  IM    
Affiliation:
Department of Hematology and Oncology, Children's University Hospital, Hamburg, Germany; email: janka@uke.uni-hamburg.de.
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