Recapitulating primary immunodeficiencies with expanded potential stem cells: Proof of concept with STAT1 gain of function

Inborn errors of immunity (IEI) often lack specific disease models and personalized management. Signal transducer and activator of transcription (STAT)-1 gain of function (GoF) is such an example of an IEI with diverse clinical phenotype with unclear pathomechanisms and unpredictable response to therapy.1-3 First described in 2011 as an autosomal-dominant chronic mucocutaneous candidiasis (CMC) disease, the spectrum of STAT1-GoF manifestations and severity varies greatly, even among family members harboring the same germline mutation.

Source: Journal of Allergy and Clinical Immunology - December 8, 2023 Category: Allergy & Immunology Authors: Xueyan Liu, Vera S.F. Chan, Kenneth G.C. Smith, Chang Ming, Chung Sze Or, Faria T.W. Tsui, Bo Gao, Matthew C. Cook, Pentao Liu, Chak Sing Lau, Philip Hei Li Source Type: research