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A De Novo STAT6 p.D419G Variant Causing Severe Multi-Organ Allergic Disease: Case Report on a Transformative Response with Dupilumab

2026-01-16

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<title>Abstract</title> <p>Background: Signal transducer and activator of transcription 6 (STAT6) gain-of-function (GOF) variants cause severe, early-onset multi-organ allergic disease through IL-4/IL-13-mediated type 2 immunity. We report a patient with a de novo STAT6 p.D419G variant and her remarkable response to targeted therapy. Case Presentation: A 39-year-old woman of Middle Eastern origin presented with l...

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Literature Corpus work
e28a5f60-f52a-50a5-8a79-ccf44927edd5
DOI
10.21203/rs.3.rs-8129352/v1
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A De Novo STAT6 p.D419G Variant Causing Severe Multi-Organ Allergic Disease: Case Report on a Transformative Response with DupilumabDOI 10.21203/rs.3.rs-8129352/v1
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