Associated Papers
In silico modeling guides identification of novel JAK1 variants associated with immune dysregulation.
Jeanpierre M et al.
Embo Molecular Medicine, 2025
Inborn errors of immunity with atopic phenotype: what we know so far.
Taietti I et al.
Expert Review of Clinical Immunology, 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
Successful treatment of JAK1-associated inflammatory disease.
Fayand A et al.
The Journal of Allergy and Clinical Immunology, 2023
Base editing screens map mutations affecting interferon-γ signaling in cancer.
Coelho MA et al.
Cancer Cell, 2023
36669486 (PubMed )
Supplement: mmc4.xlsx › BE_variants_-clinical_relevance
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