Associated Papers
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
Genetic, immunologic, and clinical features of 830 patients with Mendelian susceptibility to mycobacterial diseases (MSMD): A systematic review.
Khavandegar A et al.
The Journal of Allergy and Clinical Immunology, 2024
JAK/STAT defects and immune dysregulation, and guiding therapeutic choices.
Chaimowitz NS et al.
Immunological Reviews, 2024
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
Human JAK1 gain of function causes dysregulated myelopoeisis and severe allergic inflammation.
Biggs CM et al.
Jci Insight, 2022
Genomic Mutations of the STAT5 Transcription Factor Are Associated with Human Cancer and Immune Diseases.
Kim U et al.
International Journal of Molecular Sciences, 2022
An updated review on Mendelian susceptibility to mycobacterial diseases- a silver jubilee celebration of its first genetic diagnosis.
Das J et al.
Expert Review of Clinical Immunology, 2021
Autoinflammatory Keratinization Disease With Hepatitis and Autism Reveals Roles for JAK1 Kinase Hyperactivity in Autoinflammation.
Takeichi T et al.
Frontiers in Immunology, 2021
Complex Autoinflammatory Syndrome Unveils Fundamental Principles of JAK1 Kinase Transcriptional and Biochemical Function.
Gruber CN et al.
Immunity, 2020
Mendelian susceptibility to mycobacterial disease: 2014-2018 update.
Rosain J et al.
Immunology and Cell Biology, 2019
Biallelic JAK1 mutations in immunodeficient patient with mycobacterial infection.
Eletto D et al.
Nature Communications, 2016
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