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Chromosome 18q deletion syndrome with autoimmune diabetes mellitus: putative genomic loci for autoimmunity and immunodeficiency
Author(s) -
Hogendorf Anna,
LipskaZietkiewicz Beata S.,
Szadkowska Agnieszka,
Borowiec Maciej,
Koczkowska Magdalena,
Trzonkowski Piotr,
Drozdz Izabela,
Wyka Krystyna,
Limon Janusz,
Mlynarski Wojciech
Publication year - 2016
Publication title -
pediatric diabetes
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.678
H-Index - 75
eISSN - 1399-5448
pISSN - 1399-543X
DOI - 10.1111/pedi.12235
Subject(s) - autoimmunity , medicine , immunology , foxp3 , diabetes mellitus , immunodeficiency , thyroiditis , autoimmune thyroiditis , pathogenesis , immune system , thyroid , endocrinology
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.