ArticleJCI insight2022
Human JAK1 gain of function causes dysregulated myelopoeisis and severe allergic inflammation.
Article in JCI insight, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
What it found
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 23 citations in OpenAlex.
- Italian pediatric experts' consensus statement on diagnosis and management of primary atopic disorders.Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology · 2025Guideline
- Efficacy, safety, and pharmacokinetics of pumecitinib nasal spray for moderate-to-severe seasonal allergic rhinitis: a multicentre, double-blind, randomised, placebo-controlled, phase 2 trial.The Lancet regional health. Western Pacific · 2026Article
- Primary atopic disorders: Monogenic insights into immunity.Journal of human immunity · 2026Review
- Bridging Rare to Common Diseases: Precision Medicine and the Transforming Landscape of Pediatric Allergy and Immunology.Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology · 2026Review
- The Interleukin-7 Receptor Signaling Pathway and Its Perturbation in Immunodeficiency, Autoimmune Disease and Lymphoid Malignancy.Biomolecules · 2026Review
- In silico characterization and molecular docking of the MIOX gene in Nile tilapia (Oreochromis niloticus).Fish physiology and biochemistry · 2026Article
- Atopic dermatitis in inborn errors of immunity: at the interface of immunodeficiency and immune dysregulation.Immunologic research · 2025Review
- Impacts of Oxylipins on ischemic stroke: from pathophysiology to clinical phenotypes.Metabolomics : Official journal of the Metabolomic Society · 2025Review
- Rheumatologic and Autoimmune Features of Inborn Errors of Immunity: Implications for Diagnosis and Management.Journal of human immunity · 2025Article
- Malignant JAK-signaling: at the interface of inflammation and malignant transformation.Leukemia · 2025Review
- Inborn Errors of Immunity Presenting with Early-Onset Severe Atopy.Medicina (Kaunas, Lithuania) · 2025Review
- Neuroinflammation is responsible for pain in endometriosis - targeting the JAK-STAT pathway and mast cell activation.Frontiers in immunology · 2025Review
- Cytokine signaling defects in primary atopic diseases-an updated review.Frontiers in allergy · 2025Review
- JAK-STAT signaling in inflammation and stress-related diseases: implications for therapeutic interventions.Molecular biomedicine · 2023Review
- Donor white blood cell differential is the single largest determinant of whole blood gene expression patterns.Genomics · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
29 authors at 9 institutions in 2 countries.
Funding
Abstract
Primary atopic disorders are a group of inborn errors of immunity that skew the immune system toward severe allergic disease. Defining the biology underlying these extreme monogenic phenotypes reveals shared mechanisms underlying common polygenic allergic disease and identifies potential drug targets. Germline gain-of-function (GOF) variants in JAK1 are a cause of severe atopy and eosinophilia. Modeling the JAK1GOF (p.A634D) variant in both zebrafish and human induced pluripotent stem cells (iPSCs) revealed enhanced myelopoiesis. RNA-Seq of JAK1GOF human whole blood, iPSCs, and transgenic zebrafish revealed a shared core set of dysregulated genes involved in IL-4, IL-13, and IFN signaling. Immunophenotypic and transcriptomic analysis of patients carrying a JAK1GOF variant revealed marked Th cell skewing. Moreover, long-term ruxolitinib treatment of 2 children carrying the JAK1GOF (p.A634D) variant remarkably improved their growth, eosinophilia, and clinical features of allergic inflammation. This work highlights the role of JAK1 signaling in atopic immune dysregulation and the clinical impact of JAK1/2 inhibition in treating eosinophilic and allergic disease.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.