title: Rubinstein-Taybi syndrome with humoral and cellular defects: a case report.
abstract: The first association of Rubinstein-Taybi syndrome with immunodeficiency and the successful prevention of infection with intravenous IgG is reported in a 4 year old boy. This case suggests that immunodeficiency maybe a prominent feature of this syndrome and may predispose these patients to recurrent infections.
authors.affiliation: Department of Pediatrics, Rainbow Babies and Children's Hospital, Cleveland, Ohio, USA.
authors.forename: A
authors.initials: A
authors.lastname: Villella
authors.forename: D
authors.initials: D
authors.lastname: Bialostocky
authors.forename: E
authors.initials: E
authors.lastname: Lori
authors.forename: H
authors.initials: H
authors.lastname: Meyerson
authors.forename: R W
authors.initials: RW
authors.lastname: Hostoffer
mesh_terms: D001424:Bacterial Infections / Q000209:etiology / Q000517:prevention & control; D002675:Child, Preschool; D006801:Humans; D007074:Immunoglobulin G / Q000627:therapeutic use; D007153:Immunologic Deficiency Syndromes / Q000209:etiology*; D008297:Male; D009894:Opportunistic Infections / Q000517:prevention & control; D012008:Recurrence; D012415:Rubinstein-Taybi Syndrome / Q000150:complications*
chemical_list: D007074:Immunoglobulin G