Document Detail


Congenital T cell deficiency in a patient with CHARGE syndrome.
MedLine Citation:
PMID:  19187738     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
CHARGE syndrome is an autosomal dominant condition caused by mutations in chromodomain helicase DNA-binding 7. We report a patient with molecularly confirmed CHARGE syndrome, which included a congenital T cell deficiency, who was treated with peripheral blood mononuclear cell transplantation.
Authors:
Julie Hoover-Fong; William J Savage; Emily Lisi; Jerry Winkelstein; George H Thomas; Lies H Hoefsloot; David M Loeb
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  The Journal of pediatrics     Volume:  154     ISSN:  1097-6833     ISO Abbreviation:  J. Pediatr.     Publication Date:  2009 Jan 
Date Detail:
Created Date:  2009-02-03     Completed Date:  2009-03-03     Revised Date:  2013-02-11    
Medline Journal Info:
Nlm Unique ID:  0375410     Medline TA:  J Pediatr     Country:  United States    
Other Details:
Languages:  eng     Pagination:  140-2     Citation Subset:  AIM; IM    
Affiliation:
McKusick-Nathans Institute of Genetic Medicine, Department of Pediatrics, Johns Hopkins University, Baltimore, MD, USA. jhoover2@jhmi.edu
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / immunology*
Choanal Atresia / immunology*
DNA Helicases / immunology
DNA-Binding Proteins / immunology
Fatal Outcome
Humans
Infant, Newborn
Leukocytes, Mononuclear / transplantation*
Lymphocyte Count
Male
Sequence Analysis, DNA
Syndrome
T-Lymphocytes / immunology*
Chemical
Reg. No./Substance:
0/DNA-Binding Proteins; EC 3.6.1.-/DNA Helicases; EC 3.6.4.12/CHD7 protein, human

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


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