Congenital T cell deficiency in a patient with CHARGE syndrome.
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.
Hoover-Fong
Julie
J
McKusick-Nathans Institute of Genetic Medicine, Department of Pediatrics, Johns Hopkins University, Baltimore, MD, USA. jhoover2@jhmi.edu
Savage
William J
WJ
Lisi
Emily
E
Winkelstein
Jerry
J
Thomas
George H
GH
Hoefsloot
Lies H
LH
Loeb
David M
DM
D000015:Abnormalities, Multiple / Q000276:immunology*; D002754:Choanal Atresia / Q000276:immunology*; D004265:DNA Helicases / Q000276:immunology; D004268:DNA-Binding Proteins / Q000276:immunology; D017809:Fatal Outcome; D006801:Humans; D007231:Infant, Newborn; D007963:Leukocytes, Mononuclear / Q000637:transplantation*; D018655:Lymphocyte Count; D008297:Male; D017422:Sequence Analysis, DNA; D013577:Syndrome; D013601:T-Lymphocytes / Q000276:immunology*
D004268:DNA-Binding Proteins; D004265:DNA Helicases; C491434:CHD7 protein, human