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J Pediatr. 2009 Jan;154(1):140-2. doi: 10.1016/j.jpeds.2008.07.049.

Congenital T cell deficiency in a patient with CHARGE syndrome.

Author information

1
McKusick-Nathans Institute of Genetic Medicine, Department of Pediatrics, Johns Hopkins University, Baltimore, MD, USA. jhoover2@jhmi.edu

Abstract

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.

PMID:
19187738
PMCID:
PMC4293037
DOI:
10.1016/j.jpeds.2008.07.049
[Indexed for MEDLINE]
Free PMC Article
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