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The autoimmune targets in IPEX are dominated by gut epithelial proteins.
Eriksson D, Bacchetta R, Gunnarsson HI, Chan A, Barzaghi F, Ehl S, Hallgren Å, van Gool F, Sardh F, Lundqvist C, Laakso SM, Rönnblom A, Ekwall O, Mäkitie O, Bensing S, Husebye ES, Anderson M, Kämpe O, Landegren N. Eriksson D, et al. J Allergy Clin Immunol. 2019 Jul;144(1):327-330.e8. doi: 10.1016/j.jaci.2019.02.031. Epub 2019 Apr 23. J Allergy Clin Immunol. 2019. PMID: 31027649 Free article. No abstract available.
Current Transition Practice for Primary Immunodeficiencies and Autoinflammatory Diseases in Europe: a RITA-ERN Survey.
Israni M, Nicholson B, Mahlaoui N, Obici L, Rossi-Semerano L, Lachmann H, Hayward G, Avramovič MZ, Guffroy A, Dalm V, Rimmer R, Solis L, Villar C, Gennery AR, Skeffington S, Nordin J, Warnatz K, Korganow AS, Antón J, Cattalini M, Amin T, Berg S, Soler-Palacin P, Burns SO, Campbell M; RITA-ERN Transition Working Group Consortium. Israni M, et al. J Clin Immunol. 2023 Jan;43(1):206-216. doi: 10.1007/s10875-022-01345-y. Epub 2022 Oct 12. J Clin Immunol. 2023. PMID: 36222999 Free PMC article.
Common genetic variation in the autoimmune regulator (AIRE) locus is associated with autoimmune Addison's disease in Sweden.
Eriksson D, Bianchi M, Landegren N, Dalin F, Skov J, Hultin-Rosenberg L, Mathioudaki A, Nordin J, Hallgren Å, Andersson G, Tandre K, Rantapää Dahlqvist S, Söderkvist P, Rönnblom L, Hulting AL, Wahlberg J, Dahlqvist P, Ekwall O, Meadows JRS, Lindblad-Toh K, Bensing S, Rosengren Pielberg G, Kämpe O. Eriksson D, et al. Sci Rep. 2018 May 30;8(1):8395. doi: 10.1038/s41598-018-26842-2. Sci Rep. 2018. PMID: 29849176 Free PMC article.