hrp0089rfc3.3 | Diabetes and Insulin 1 | ESPE2018
Pruhova Stepanka
, Strakova Veronika
, Elblova Lenka
, Johnson Matthew B
, Dusatkova Petra
, Obermannova Barbora
, Petruzelkova Lenka
, Kolouskova Stanislava
, Snajderova Marta
, Fronkova Eva
, Svaton Michael
, Lebl Jan
, Hattersley Andrew T
, Sumnik Zdenek
Introduction: Monogenic Type 1 diabetes (T1D) is a rare disease caused by pathogenic variant in a single gene leading to dysregulation of immune system. T1D is combined with other autoimmunity like immune cytopenias, inflammatory bowel disease, rheumatoid arthritis, atopic eczema, autoimmune thyroid disease etc in these patients. Pathogenic variants in the AIRE, FOXP3, LRBA, IL2RA, CTLA4, STAT3 and STAT1 genes have...