Document Detail

MonoMAC syndrome in a patient with a GATA2 mutation: case report and review of the literature.
MedLine Citation:
PMID:  23728141     Owner:  NLM     Status:  MEDLINE    
We report a case of MonoMAC syndrome in a patient with a GATA2 mutation and discuss the manifestations, diagnosis, and treatment of this novel immunodeficiency disorder.
Jose F Camargo; Stephen A Lobo; Amy P Hsu; Christa S Zerbe; Gary P Wormser; Steven M Holland
Publication Detail:
Type:  Case Reports; Journal Article; Research Support, N.I.H., Intramural; Review     Date:  2013-05-31
Journal Detail:
Title:  Clinical infectious diseases : an official publication of the Infectious Diseases Society of America     Volume:  57     ISSN:  1537-6591     ISO Abbreviation:  Clin. Infect. Dis.     Publication Date:  2013 Sep 
Date Detail:
Created Date:  2013-08-12     Completed Date:  2014-03-10     Revised Date:  2014-09-02    
Medline Journal Info:
Nlm Unique ID:  9203213     Medline TA:  Clin Infect Dis     Country:  United States    
Other Details:
Languages:  eng     Pagination:  697-9     Citation Subset:  IM    
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MeSH Terms
GATA2 Transcription Factor / genetics*
Immunologic Deficiency Syndromes / diagnosis*,  genetics*
Leukopenia / complications*,  diagnosis*
Mycobacterium Infections / complications*,  diagnosis*
Young Adult
Reg. No./Substance:
0/GATA2 Transcription Factor; 0/GATA2 protein, human

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

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