title: Autoimmune disorders in Kabuki syndrome.
abstract: Kabuki syndrome is associated with abnormalities in multiple organ systems. While many of the anomalies are congenital malformations, other clinical manifestations may not appear until later in childhood. Among these associated conditions, autoimmune abnormalities have been described in several patients. These include idiopathic thrombocytopenic purpura (ITP), hemolytic anemia, thyroiditis, and vitiligo. In this report, we describe five affected patients with autoimmune manifestations. Four patients had ITP, and two of these patients had concurrent hemolytic anemia. The fifth patient had vitiligo. Two of the patients with ITP had a chronic and relapsing course. Of note, some of these patients also had hypogammaglobulinemia. The autoimmune disorders may be manifestations of abnormal immune regulation. We conclude that Kabuki syndrome is associated with an increased incidence of autoimmune disorders. In addition, the presence of an underlying immune defect may predispose these children to a chronic course of these autoimmune conditions.
authors.affiliation: Division of Human Genetics and Molecular Biology, Department of Pediatrics, The Children's Hospital of Philadelphia and The University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA. jeming@mail.med.upenn.edu
authors.forename: Jeffrey E
authors.initials: JE
authors.lastname: Ming
authors.forename: Karen L
authors.initials: KL
authors.lastname: Russell
authors.forename: Donna M
authors.initials: DM
authors.lastname: McDonald-McGinn
authors.forename: Elaine H
authors.initials: EH
authors.lastname: Zackai
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000276:immunology* / Q000473:pathology; D000293:Adolescent; D001327:Autoimmune Diseases / Q000276:immunology / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D002972:Cleft Palate / Q000473:pathology; D019465:Craniofacial Abnormalities / Q000473:pathology*; D002658:Developmental Disabilities / Q000473:pathology*; D005260:Female; D006130:Growth Disorders / Q000473:pathology; D006801:Humans; D008607:Intellectual Disability / Q000473:pathology; D007621:Karyotyping; D008297:Male; D016553:Purpura, Thrombocytopenic, Idiopathic / Q000276:immunology / Q000473:pathology; D013577:Syndrome; D014820:Vitiligo / Q000276:immunology / Q000473:pathology