Congenital T cell deficiency in a patient with CHARGE syndrome.

TitleCongenital T cell deficiency in a patient with CHARGE syndrome.
Publication TypeJournal Article
Year of Publication2009
AuthorsHoover-Fong J, Savage WJ, Lisi E, Winkelstein J, Thomas GH, Hoefsloot LH, Loeb DM
JournalThe Journal of pediatrics
Volume154
Issue1
Pagination140-2
Date Published2009 Jan
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.

DOI10.1242/jcs.031427
Alternate JournalJ. Pediatr.