STAT6 gain-of-function disease: p.D519N is a new disease-causing variant that responds well to dupilumab treatment
This case report presents a new genetic variant that causes STAT6 gain-of-function disease in 2 patients, expands the clinical phenotype of STAT6 gain-of-function disease, and describes its authors’ success in using therapeutics to manage this rare disease.
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| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2025-08-01
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| Series: | Journal of Allergy and Clinical Immunology: Global |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2772829325000955 |
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