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 journalArticle

8 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
Publication statusPublished - Jan 1 2009
Externally publishedYes


ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Hoover-Fong, J., Savage, W. J., Lisi, E., Winkelstein, J., Thomas, G. H., Hoefsloot, L. H., & Loeb, D. M. (2009). Congenital T Cell Deficiency in a Patient with CHARGE Syndrome. Journal of Pediatrics, 154(1), 140-142.