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To read the full abstract: Ann Endocrinol (Paris). 2018; 79(3): 157163.This review summarizes the current knowledge regarding the genetic susceptibility to autoimmune Addisons disease (AAD) and the genes outside the MHC complex associated with AAD. Fourteen genes (CTLA-4, PD-L1, PTPN22, NALP1, STAT4, CIITA, BACH2, FCRL3, GPR174, GATA3, NFATC1, CLEC16A, CYP27B1, and VDR) have ...

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ey0018.8-10 | New Genes | ESPEYB18

8.10. GWAS for autoimmune addison's disease identifies multiple risk loci and highlights AIRE in disease susceptibility

D Eriksson , EC Royrvik , M Aranda-Guillen , AH Berger , N Landegren , H Artaza , AE Hallgren , MA Grytaas , S Strom , E Bratland , IR Botusan , BE Oftedal , L Breivik , M Vaudel , O Helgeland , A Falorni , AP Jorgensen , AL Hulting , J Svartberg , O Ekwall , KJ Fougner , J Wahlberg , BG Nedrebo , P Dahlqvist , PM Knappskog , ASB Wolff , S Bensing , S Johansson , O Kampe , ES Husebye

Nat Commun. 2021 Feb 11;12(1):959.https://pubmed.ncbi.nlm.nih.gov/33574239/The authors report a genome-wide association study (GWAS) of autoimmune Addisons disease (AAD) in 1223 cases (defined as autoimmune adrenal failure plus positive serum autoantibodies against 21-hydroxylase) and 4097 healthy controls. Patients with APS-1 were identified and excluded. They identified 9 genome-wid...

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ESPE Yearbook of Paediatric Endocrinology

8.17. Autoimmune Addison's disease - An update on pathogenesis

8.10. GWAS for autoimmune addison's disease identifies multiple risk loci and highlights AIRE in disease susceptibility

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