hrp0084fc13.1 | Thyroid | ESPE2015

Gain of Function STAT3 Mutation in a Boy with Early Onset Autoimmune Diabetes and Thyroid Disease, Prenatal and Postnatal Growth Impairment and Lymphoproliferation

Sediva Hana , Dusatkova Petra , Dusatkova Lenka , Sumnik Zdenek , Kolouskova Stanislava , Pruhova Stepanka , Lebl Jan

Background: Recently, a new monogenic cause of multiple immune system disorders and short stature has been attributed to germline activating mutations in the STAT3 gene encoding signal transducer and activator of transcription 3. Possible pathophysiological mechanisms include enhanced proliferation and activation of T-helper 17 cells and inhibition of regulatory T-cells by STAT3, as described in in vitro studies.Case presentation: The a...