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ey0015.10-1 | Aetiology and heterogeneity of type 1 diabetes | ESPEYB15

10.1 TCF7L2 genetic variants contribute to phenotypic heterogeneity of T1DM

MJ Redondo , S Geyer , AK Steck , J Sosenko , M Anderson , P Antinozzi , A Michels , J Wentworth , P Xu , A Pugliese , T1DM TrialNet Study Group

To read the full abstract: Diabetes Care. 2018;41:311-317Some researchers assume that the etiology of T1DM is distinct from that of Type 2 diabetes mellitus. T1DM is characterized by autoimmune phenomena leading to the destruction of pancreatic islets and most importantly of beta-cells. Genetic factors are thought to influence the likelihood of autoimmune phenomena developing into overt autoimmune di...

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ey0021.8-13 | New Hope | ESPEYB21

8.13. The role of interferon-[gamma] in autoimmune polyendocrine syndrome Type 1

V Oikonomou , G Smith , GM Constantine , MM Schmitt , EMN Ferre , JC Alejo , D Riley , D Kumar , Dias L Dos Santos , J Pechacek , Y Hadjiyannis , T Webb , BA Seifert , R Ghosh , M Walkiewicz , D Martin , M Besnard , BD Snarr , S Deljookorani , CR Lee , T DiMaggio , P Barber , LB Rosen , A Cheng , A Rastegar , AA de Jesus , J Stoddard , HS Kuehn , TJ Break , HH Kong , L Castelo-Soccio , B Colton , BM Warner , DE Kleiner , MM Quezado , JL Davis , KP Fennelly , KN Olivier , SD Rosenzweig , AF Suffredini , MS Anderson , M Swidergall , C Guillonneau , LD Notarangelo , R Goldbach-Mansky , O Neth , MT Monserrat-Garcia , J Valverde-Fernandez , JM Lucena , AL Gomez-Gila , A Garcia Rojas , MRJ Seppanen , J Lohi , M Hero , S Laakso , P Klemetti , V Lundberg , O Ekwall , P Olbrich , KK Winer , B Afzali , NM Moutsopoulos , SM Holland , T Heller , S Pittaluga , MS Lionakis

Brief Summary: This study suggests that excessive interferon-γmediated responses have a pathogenic role in APS-1 and provides the foundation for therapies that affect interferon-γmediated disease.Commentary: Autoimmune polyendocrine syndrome type 1 (APS-1), also known as autoimmune polyendocrinopathy, candidiasis, and ectodermal dystrophy (APECED), is an autosomal recessive multiorgan syndrome caused by loss-of-function variants in ...

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ESPE Yearbook of Paediatric Endocrinology

10.1 TCF7L2 genetic variants contribute to phenotypic heterogeneity of T1DM

8.13. The role of interferon-[gamma] in autoimmune polyendocrine syndrome Type 1

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