Congenital T cell deficiency in a patient with CHARGE syndrome.
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ABSTRACT:
SUBMITTER: Hoover-Fong J
PROVIDER: S-EPMC4293037 | biostudies-literature | 2009 Jan
REPOSITORIES: biostudies-literature
Publications
Congenital T cell deficiency in a patient with CHARGE syndrome.
Hoover-Fong Julie J Savage William J WJ Lisi Emily E Winkelstein Jerry J Thomas George H GH Hoefsloot Lies H LH Loeb David M DM
The Journal of pediatrics 20090101 1
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. ...[more]
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