title: [Graves disease and IgA deficiency as manifestations of 22q11.2 deletion syndrome].
abstract: The 22q11.2 deletion syndrome (22q11.2DS) is related to a high phenotypic variability including the velocardiofacial/DiGeorge spectrum. Autoimmune, endocrine and immunodeficiency manifestations have been reportedly associated with the syndrome. The objective of this study was to report a case of 22q11.2DS associated with IgA deficiency and Graves disease and review literature in order to verify the frequency of syndrome alterations. Autoimmune disorders have been increasingly related to 22q11.2DS, and new phenotypes are being incorporated in the clinical spectrum of this syndrome. In our study we found that Graves disease in association with 22q11.2DS was reported in only sixteen patients, and fifteen cases were described in the last 13 years. Based on the incidence and on the amplitude of this recognized spectrum, we reinforce the findings of literature that Graves disease should be included on the 22q11.2DS manifestations, which would lead us to seek it with 22q11.2 deletion patients.
authors.affiliation: Curso de Medicina do Centro Universitário de Volta Redonda, RJ, Brasil. joaomiguel87@yahoo.com.br
authors.forename: João Miguel de Almeida
authors.initials: JM
authors.lastname: Silva
authors.forename: Cecília Pereira
authors.initials: CP
authors.lastname: Silva
authors.forename: Flavio Fernando Nogueira de
authors.initials: FF
authors.lastname: Melo
authors.forename: Luis Alberto A
authors.initials: LA
authors.lastname: Silva
authors.forename: Claudia Yamada
authors.initials: CY
authors.lastname: Utagawa
mesh_terms: D058165:22q11 Deletion Syndrome / Q000150:complications* / Q000235:genetics; D001327:Autoimmune Diseases / Q000235:genetics; D002648:Child; D006111:Graves Disease / Q000235:genetics*; D006801:Humans; D017098:IgA Deficiency / Q000235:genetics*; D008297:Male