Autoimmune disorders in Kabuki syndrome.

TitleAutoimmune disorders in Kabuki syndrome.
Publication TypeJournal Article
Year of Publication2005
AuthorsMing JE, Russell KL, McDonald-McGinn DM, Zackai EH
JournalAmerican journal of medical genetics. Part A
Date Published2005 Jan 30

Kabuki syndrome is associated with abnormalities in multiple organ systems. While many of the anomalies are congenitali 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 idiopathici thrombocytopenic purpurai (ITPi), hemolytic anemiai, thyroiditis, and vitiligoi. 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 hypogammaglobulinemiai. 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.

Alternate JournalAm. J. Med. Genet. A
Citation Key15523604