[Graves disease and IgA deficiency as manifestations of 22q11.2 deletion syndrome]. / Doença de Graves e deficiência de IgA como manifestações da síndrome de deleção 22q11.2.
Arq Bras Endocrinol Metabol
; 54(6): 572-7, 2010 Aug.
Article
em Pt
| MEDLINE
| ID: mdl-20857064
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doença de Graves
/
Deficiência de IgA
/
Síndrome da Deleção 22q11
Limite:
Child
/
Humans
/
Male
Idioma:
Pt
Ano de publicação:
2010
Tipo de documento:
Article