Associated Papers
Monogenic disorders of the IRF transcription factors.
Stojcic MP et al.
The Journal of Experimental Medicine, 2026
A novel dominant-negative variant of IRF8 in a mother and son: Clinical, phenotypic and biological characteristics.
Ham H et al.
The Journal of Allergy and Clinical Immunology, 2025
Spotlight on amino acid changing mutations in the JAK-STAT pathway: from disease-specific mutation to general mutation databases.
Hoffmann M et al.
Scientific Reports, 2025
39979591 (PubMed )
Supplement: 41598_2025_90788_MOESM2_ESM.docx
Human STAT3 variants underlie autosomal dominant hyper-IgE syndrome by negative dominance.
Asano T et al.
The Journal of Experimental Medicine, 2021
Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia.
Vaz FM et al.
Brain : a Journal of Neurology, 2019
31637422 (PubMed )
Supplement: awz291_supplementary_data.zip › awz291-Suppl_data › Supplementary_Data2.pdf
Select a paper to view details