Congenital T Cell Deficiency in a Patient with CHARGE Syndrome

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

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
Pages (from-to)140-142
Number of pages3
JournalJournal of Pediatrics
Volume154
Issue number1
DOIs
StatePublished - Jan 2009

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CHARGE Syndrome
DNA Helicases
T-Lymphocytes
Cell Transplantation
Blood Cells
Mutation

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Hoover Fong, J. E., 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. https://doi.org/10.1016/j.jpeds.2008.07.049

Congenital T Cell Deficiency in a Patient with CHARGE Syndrome. / Hoover Fong, Julie E; Savage, William J.; Lisi, Emily; Winkelstein, Jerry; Thomas, George H.; Hoefsloot, Lies H.; Loeb, David M.

In: Journal of Pediatrics, Vol. 154, No. 1, 01.2009, p. 140-142.

Research output: Contribution to journalArticle

Hoover Fong, JE, Savage, WJ, Lisi, E, Winkelstein, J, Thomas, GH, Hoefsloot, LH & Loeb, DM 2009, 'Congenital T Cell Deficiency in a Patient with CHARGE Syndrome', Journal of Pediatrics, vol. 154, no. 1, pp. 140-142. https://doi.org/10.1016/j.jpeds.2008.07.049
Hoover Fong JE, Savage WJ, Lisi E, Winkelstein J, Thomas GH, Hoefsloot LH et al. Congenital T Cell Deficiency in a Patient with CHARGE Syndrome. Journal of Pediatrics. 2009 Jan;154(1):140-142. https://doi.org/10.1016/j.jpeds.2008.07.049
Hoover Fong, Julie E ; Savage, William J. ; Lisi, Emily ; Winkelstein, Jerry ; Thomas, George H. ; Hoefsloot, Lies H. ; Loeb, David M. / Congenital T Cell Deficiency in a Patient with CHARGE Syndrome. In: Journal of Pediatrics. 2009 ; Vol. 154, No. 1. pp. 140-142.
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