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Human inherited PD-L1 deficiency is clinically and immunologically less severe than PD-1 deficiency.
Johnson MB, Ogishi M, Domingo-Vila C, De Franco E, Wakeling MN, Imane Z, Resnick B, Williams E, Galão RP, Caswell R, Russ-Silsby J, Seeleuthner Y, Rinchai D, Fagniez I, Benson B, Dufort MJ, Speake C, Smithmyer ME, Hudson M, Dobbs R; EXE-T1D consortium; Quandt Z, Hattersley AT, Zhang P, Boisson-Dupuis S, Anderson MS, Casanova JL, Tree TI, Oram RA. Johnson MB, et al. J Exp Med. 2024 Jun 3;221(6):e20231704. doi: 10.1084/jem.20231704. Epub 2024 Apr 18. J Exp Med. 2024. PMID: 38634869 Free PMC article.
Congenital beta cell defects are not associated with markers of islet autoimmunity, even in the context of high genetic risk for type 1 diabetes.
Wyatt RC, Hagopian WA, Roep BO, Patel KA, Resnick B, Dobbs R, Hudson M; EXE-T1D Consortium; De Franco E, Ellard S, Flanagan SE, Hattersley AT, Oram RA, Johnson MB. Wyatt RC, et al. Diabetologia. 2022 Jul;65(7):1179-1184. doi: 10.1007/s00125-022-05697-3. Epub 2022 Apr 30. Diabetologia. 2022. PMID: 35501400 Free PMC article.
Type 1 diabetes can present before the age of 6 months and is characterised by autoimmunity and rapid loss of beta cells.
Johnson MB, Patel KA, De Franco E, Hagopian W, Killian M, McDonald TJ, Tree TIM, Domingo-Vila C, Hudson M, Hammersley S, Dobbs R; EXE-T1D Consortium; Ellard S, Flanagan SE, Hattersley AT, Oram RA. Johnson MB, et al. Diabetologia. 2020 Dec;63(12):2605-2615. doi: 10.1007/s00125-020-05276-4. Epub 2020 Oct 8. Diabetologia. 2020. PMID: 33029656 Free PMC article.