Document Detail


Familial hemophagocytic lymphohistiocytosis and X-linked lymphoproliferative disease.
MedLine Citation:
PMID:  22129058     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Familial hemophagocytic lymphohistiocytosis and X-linked lymphoproliferative disease are rare, fatal, inherited immune deficiency disorders. Both diagnoses are used to describe patients who are affected by several known or presumed genetic mutations that, in common, predispose patients to the development of hemophagocytic lymphohistiocytosis. Many pivotal advances have been made in recent years with regard to our understanding and treatment of these diseases. Here, we will describe the genetic and functional bases of these diseases, highlight their clinical manifestations, and discuss current diagnostic and therapeutic strategies.
Authors:
Rebecca A Marsh; Alexandra H Filipovich
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Annals of the New York Academy of Sciences     Volume:  1238     ISSN:  1749-6632     ISO Abbreviation:  Ann. N. Y. Acad. Sci.     Publication Date:  2011 Nov 
Date Detail:
Created Date:  2011-12-01     Completed Date:  2012-01-27     Revised Date:  2012-02-15    
Medline Journal Info:
Nlm Unique ID:  7506858     Medline TA:  Ann N Y Acad Sci     Country:  United States    
Other Details:
Languages:  eng     Pagination:  106-21     Citation Subset:  IM    
Copyright Information:
© 2011 New York Academy of Sciences.
Affiliation:
Division of Bone Marrow Transplantation and Immune Deficiency, Cancer and Blood Diseases Institute, Cincinnati Children's Hospital Medical Center, Ohio 45229, USA. Rebecca.Marsh@cchmc.org
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MeSH Terms
Descriptor/Qualifier:
Humans
Lymphohistiocytosis, Hemophagocytic / diagnosis*,  genetics,  therapy
Lymphoproliferative Disorders / diagnosis*,  genetics,  therapy
Mutation
Comments/Corrections
Erratum In:
Ann N Y Acad Sci. 2011 Dec;1246:141

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


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