title: Congenital T cell deficiency in a patient with CHARGE syndrome.
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.
authors.affiliation: McKusick-Nathans Institute of Genetic Medicine, Department of Pediatrics, Johns Hopkins University, Baltimore, MD, USA. jhoover2@jhmi.edu
authors.forename: Julie
authors.initials: J
authors.lastname: Hoover-Fong
authors.forename: William J
authors.initials: WJ
authors.lastname: Savage
authors.forename: Emily
authors.initials: E
authors.lastname: Lisi
authors.forename: Jerry
authors.initials: J
authors.lastname: Winkelstein
authors.forename: George H
authors.initials: GH
authors.lastname: Thomas
authors.forename: Lies H
authors.initials: LH
authors.lastname: Hoefsloot
authors.forename: David M
authors.initials: DM
authors.lastname: Loeb
mesh_terms: 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*
chemical_list: D004268:DNA-Binding Proteins; D004265:DNA Helicases; C491434:CHD7 protein, human