Your browser doesn't support javascript.
loading
Chromosome 18q deletion syndrome with autoimmune diabetes mellitus: putative genomic loci for autoimmunity and immunodeficiency.
Hogendorf, Anna; Lipska-Zietkiewicz, Beata S; Szadkowska, Agnieszka; Borowiec, Maciej; Koczkowska, Magdalena; Trzonkowski, Piotr; Drozdz, Izabela; Wyka, Krystyna; Limon, Janusz; Mlynarski, Wojciech.
Afiliação
  • Hogendorf A; Department of Pediatrics, Oncology, Hematology and Diabetology, Medical University of Lodz, Lodz, Poland.
  • Lipska-Zietkiewicz BS; Department of Biology and Genetics, Medical University of Gdansk, Gdansk, Poland.
  • Szadkowska A; Department of Pediatrics, Oncology, Hematology and Diabetology, Medical University of Lodz, Lodz, Poland.
  • Borowiec M; Department of Pediatrics, Oncology, Hematology and Diabetology, Medical University of Lodz, Lodz, Poland.
  • Koczkowska M; Department of Clinical Genetics, Medical University of Lodz, Lodz, Poland.
  • Trzonkowski P; Department of Biology and Genetics, Medical University of Gdansk, Gdansk, Poland.
  • Drozdz I; Clinical Immunology and Transplantology Unit at the Department of Immunology, Medical University of Gdansk, Gdansk, Poland.
  • Wyka K; Department of Pediatrics, Oncology, Hematology and Diabetology, Medical University of Lodz, Lodz, Poland.
  • Limon J; Department of Pediatrics, Oncology, Hematology and Diabetology, Medical University of Lodz, Lodz, Poland.
  • Mlynarski W; Department of Biology and Genetics, Medical University of Gdansk, Gdansk, Poland.
Pediatr Diabetes ; 17(2): 153-9, 2016 Mar.
Article em En | MEDLINE | ID: mdl-25403779
ABSTRACT
A girl with 18q deletion syndrome was diagnosed with autoimmune diabetes mellitus and Hashimoto's thyroiditis at the age of 3 yr. In addition, the girl suffered from recurrent infections due to immunoglobulin A and IgG4 deficiency. She was also found to have CD3+CD4+FoxP3+, CD3+CD4+FoxP3+CD25+, and CD3+CD4+CD25+CD127 regulatory T cells deficiency. The exceptional coincidence of the two autoimmune disorders occurring at an early age, and associated with immune deficiency, implies that genes located on deleted 19.4 Mbp region at 18q21.32-q23 (chr1858,660,699-78,012,870) might play a role in the pathogenesis of autoimmunity leading to ß cell destruction and diabetes.
Assuntos
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Autoimunidade / Transtornos Cromossômicos / Diabetes Mellitus Tipo 1 / Loci Gênicos / Síndromes de Imunodeficiência Limite: Child, preschool / Female / Humans Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Autoimunidade / Transtornos Cromossômicos / Diabetes Mellitus Tipo 1 / Loci Gênicos / Síndromes de Imunodeficiência Limite: Child, preschool / Female / Humans Idioma: En Ano de publicação: 2016 Tipo de documento: Article