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Type 1 diabetes and inborn errors of immunity: Complete strangers or 2 sides of the same coin?

The Journal of allergy and clinical immunology - 1 Jun 2023

Mancuso Gaia, Bechi Genzano Camillo, Fierabracci Alessandra, Fousteri Georgia

Abstract excerpt

Type 1 diabetes (T1D) is a polygenic disease and does not follow a mendelian pattern. Inborn errors of immunity (IEIs), on the other hand, are caused by damaging germline variants, suggesting that T1D and IEIs have nothing in common. Some IEIs, resulting from mutations in genes regulating regulatory T-cell homeostasis, are associated with elevated incidence of T1D. The genetic spectrum of IEIs is gradually being...

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PMID: 37097271
DOI: 10.1016/j.jaci.2023.03.026

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