Autoinflammatory keratinization disease with hepatitis and autism reveals roles for JAK1 kinase hyperactivity in autoinflammation.. Autoinflammatory keratinization disease with hepatitis and autism reveals roles for JAK1 kinase hyperactivity in autoinflammation.

Clinical observations reinforced by analysis of a knock-in mouse model confirm the crucial role of JAK1 in regulating physiological inflammatory processes. The present findings expand the phenotypic spectrum resulted from JAK1 hyperactivation and further underscore how gain-of-function JAK1 mutations contribute to multisystem autoinflammation. Overall design: RNA sequencing was performed using extracted RNA from the brain, liver, and skin of newborn Jak1 knock in (KI) mice (Jak1H595D/+;I596I/+;Y597Y/+) and wild type (WT) mice . We performed a gene set enrichment analysis using the hallmark gene set database.