title: Kabuki (Niikawa-Kuroki) syndrome associated with immunodeficiency.
abstract: We report a case of a 19-year-old male with the cardinal features of the Kabuki syndrome (KS) and, in addition, with severe immunodeficiency. Finding immune deficiency in a KS patient, prompted us to determine whether this association was related to a deletion within the DiGeorge chromosomal region. Fluorescence in situ hybridization (FISH) with the Oncor probe N25(D22S75) revealed no deletion of 22q11.2 in the patient.
authors.affiliation: Department of Genetics, The Children's Memorial Health Institute, Warsaw, Poland.
authors.forename: K H
authors.initials: KH
authors.lastname: Chrzanowska
authors.forename: M
authors.initials: M
authors.lastname: Krajewska-Walasek
authors.forename: J
authors.initials: J
authors.lastname: Kuś
authors.forename: J
authors.initials: J
authors.lastname: Michałkiewicz
authors.forename: D
authors.initials: D
authors.lastname: Maziarka
authors.forename: J K
authors.initials: JK
authors.lastname: Wolski
authors.forename: L
authors.initials: L
authors.lastname: Brecevic
authors.forename: K
authors.initials: K
authors.lastname: Madaliński
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002478:Cells, Cultured; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D019465:Craniofacial Abnormalities / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D016511:Severe Combined Immunodeficiency / Q000150:complications* / Q000235:genetics; D013577:Syndrome; D013601:T-Lymphocytes / Q000187:drug effects / Q000276:immunology