Chromosome 18q deletion syndrome with autoimmune diabetes mellitus: putative genomic loci for autoimmunity and immunodeficiency.

Autor:	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.; Department of Clinical Genetics, Medical University of Lodz, Lodz, Poland., Koczkowska M; Department of Biology and Genetics, Medical University of Gdansk, Gdansk, Poland., Trzonkowski P; Clinical Immunology and Transplantology Unit at the Department of Immunology, Medical University of Gdansk, Gdansk, Poland., Drozdz I; Department of Pediatrics, Oncology, Hematology and Diabetology, Medical University of Lodz, Lodz, Poland., Wyka K; Department of Pediatrics, Oncology, Hematology and Diabetology, Medical University of Lodz, Lodz, Poland., Limon J; Department of Biology and Genetics, Medical University of Gdansk, Gdansk, Poland., Mlynarski W; Department of Pediatrics, Oncology, Hematology and Diabetology, Medical University of Lodz, Lodz, Poland.
Jazyk:	angličtina
Zdroj:	Pediatric diabetes [Pediatr Diabetes] 2016 Mar; Vol. 17 (2), pp. 153-9. Date of Electronic Publication: 2014 Nov 18.
DOI:	10.1111/pedi.12235
Abstrakt:	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 (chr18:58,660,699-78,012,870) might play a role in the pathogenesis of autoimmunity leading to β cell destruction and diabetes. (© 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)
Databáze:	MEDLINE
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