Congenital T Cell Deficiency in a Patient with CHARGE Syndrome

Julie Hoover-Fong, William J. Savage, Emily Lisi, Jerry Winkelstein, George H. Thomas, Lies H. Hoefsloot, David M. Loeb

Research output: Contribution to journalArticlepeer-review

10 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)140-142
Number of pages3
JournalJournal of Pediatrics
Issue number1
StatePublished - Jan 2009
Externally publishedYes

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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