Chromosome 18q deletion syndrome with autoimmune diabetes mellitus: putative genomic loci for autoimmunity and immunodeficiency.
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.
Department of Pediatrics, Oncology, Hematology and Diabetology, Medical University of Lodz, Lodz, Poland.
Anna
A
Hogendorf
Department of Biology and Genetics, Medical University of Gdansk, Gdansk, Poland.
Beata S
BS
Lipska-Zietkiewicz
Department of Pediatrics, Oncology, Hematology and Diabetology, Medical University of Lodz, Lodz, Poland.
Agnieszka
A
Szadkowska
Department of Pediatrics, Oncology, Hematology and Diabetology, Medical University of Lodz, Lodz, Poland.|Department of Clinical Genetics, Medical University of Lodz, Lodz, Poland.
Maciej
M
Borowiec
Department of Biology and Genetics, Medical University of Gdansk, Gdansk, Poland.
Magdalena
M
Koczkowska
Clinical Immunology and Transplantology Unit at the Department of Immunology, Medical University of Gdansk, Gdansk, Poland.
Piotr
P
Trzonkowski
Department of Pediatrics, Oncology, Hematology and Diabetology, Medical University of Lodz, Lodz, Poland.
Izabela
I
Drozdz
Department of Pediatrics, Oncology, Hematology and Diabetology, Medical University of Lodz, Lodz, Poland.
Krystyna
K
Wyka
Department of Biology and Genetics, Medical University of Gdansk, Gdansk, Poland.
Janusz
J
Limon
Department of Pediatrics, Oncology, Hematology and Diabetology, Medical University of Lodz, Lodz, Poland.
Wojciech
W
Mlynarski
D015551:Autoimmunity / Q000235:genetics*; D002675:Child, Preschool; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000150:complications* / Q000235:genetics; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics; D003922:Diabetes Mellitus, Type 1 / Q000150:complications / Q000235:genetics*; D005260:Female; D056426:Genetic Loci; D050031:Hashimoto Disease / Q000150:complications / Q000235:genetics; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000150:complications / Q000235:genetics*
18q deletion syndrome; Hashimoto's thyroiditis; IgA deficiency; diabetes mellitus