ArticleThe Journal of allergy and clinical immunology2023
Severe allergic dysregulation due to a gain of function mutation in the transcription factor STAT6.
Article in The Journal of allergy and clinical immunology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 1 of them a synthesis that pooled it.
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Who cites it
33 citing papers in PubMed, 1 synthesis or guideline pooled it.
- 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
- Primary atopic disorders: Monogenic insights into immunity.Journal of human immunity · 2026Review
- Pharmacological targeting of the JAK-STAT pathway: new concepts and emerging indications.Nature reviews. Drug discovery · 2026Review
- STAT6: Multidimensional analysis from hematopoietic immune regulation to pathogenesis mechanisms and therapeutic targets in hematologic malignancies.Annals of hematology · 2026Review
- JAK-STAT signaling: molecular mechanism and targeted treatment in dento-maxillofacial abnormalities.International journal of oral science · 2026Review
- The lung microbiome and asthma: from inflammatory phenotype differentiation to microbe-based immunomodulatory strategies.Frontiers in immunology · 2026Review
- Case Report: A case series of using whole exome sequencing to detect novel variants in Vietnamese patients with inborn errors of immunity.Frontiers in genetics · 2026Article
- The Multifaceted Roles of STAT6: Implications for Precision Immunotherapeutics.ImmunoTargets and therapy · 2026Review
- Gut mucosal immune responses - Implications for celiac disease and food allergy.Seminars in immunology · 2025Review
- Atopic dermatitis in inborn errors of immunity: at the interface of immunodeficiency and immune dysregulation.Immunologic research · 2025Review
- STAT6 gain-of-function disease: p.D519N is a new disease-causing variant that responds well to dupilumab treatment.The journal of allergy and clinical immunology. Global · 2025Article
- Human inborn errors of immunity: 2024 update on the classification from the International Union of Immunological Societies Expert Committee.Journal of human immunity · 2025Article
- Allergen Immunotherapy: Pitfalls, Perks and Unexpected Allies.International journal of molecular sciences · 2025Review
- Decoding Immunobiology Through Genetic Errors of Immunity.Annual review of immunology · 2025Review
- Inborn errors of immunity with atopic phenotypes in the allergy and immunology clinic: a practical review.Current opinion in allergy and clinical immunology · 2025Review
- Non-Malignant Granulocyte and Monocyte Disorders: An Update.British journal of biomedical science · 2025Review
- Understanding and Managing Hyper IgE Syndromes.ImmunoTargets and therapy · 2025Review
- The genetics of hyper IgE syndromes.Frontiers in immunology · 2025Review
- Identification and Validation of the Potential Key Biomarkers for Atopic Dermatitis Mitochondrion by Learning Algorithms.Journal of inflammation research · 2025Article
- JAK/STAT in human diseases: a common axis in immunodeficiencies and hematological disorders.Frontiers in immunology · 2025Review
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21 authors.
Funding
Abstract
backgroundInborn errors of immunity have been implicated in causing immune dysregulation, including allergic diseases. STAT6 is a key regulator of allergic responses.
objectivesThis study sought to characterize a novel gain-of-function STAT6 mutation identified in a child with severe allergic manifestations.
methodsWhole-exome and targeted gene sequencing, lymphocyte characterization, and molecular and functional analyses of mutated STAT6 were performed.
resultsThis study reports a child with a missense mutation in the DNA binding domain of STAT6 (c.1114G>A, p.E372K) who presented with severe atopic dermatitis, eosinophilia, and elevated IgE. Naive lymphocytes from the affected patient displayed increased T
conclusionsThis study identified a novel inborn error of immunity due to a STAT6 gain-of-function mutation that gave rise to severe allergic dysregulation. Janus kinase inhibitor therapy could represent an effective targeted treatment for this disorder.
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