Associated Papers
In silico modeling guides identification of novel JAK1 variants associated with immune dysregulation.
Jeanpierre M et al.
Embo Molecular Medicine, 2025
Cytokine signaling defects in primary atopic diseases-an updated review.
Thakur V et al.
Frontiers in Allergy, 2025
JAK/STAT in human diseases: a common axis in immunodeficiencies and hematological disorders.
Djidjik R et al.
Frontiers in Immunology, 2025
41438753 (PubMed )
Supplement: Table1.pdf
Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis.
Horesh ME et al.
The Journal of Experimental Medicine, 2024
Autoinflammatory Keratinization Diseases-The Concept, Pathophysiology, and Clinical Implications.
Blicharz L et al.
Clinical Reviews in Allergy & Immunology, 2023
JAKs and STATs from a Clinical Perspective: Loss-of-Function Mutations, Gain-of-Function Mutations, and Their Multidimensional Consequences.
Ott N et al.
Journal of Clinical Immunology, 2023
Autoinflammatory Keratinization Disease With Hepatitis and Autism Reveals Roles for JAK1 Kinase Hyperactivity in Autoinflammation.
Takeichi T et al.
Frontiers in Immunology, 2021
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