STAT6 gain-of-function disease: p.D519N is a new disease-causing variant that responds well to dupilumab treatment

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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Bibliographic Details
Main Authors: Simran Samra, MSc, Eleanor Cook, MBBS, Jessica Wilson, APRN, Mehul Sharma, PhD, Liam Golding, MSc, David T. Yao, BSc, Rebecca A. Marsh, MD, Stuart E. Turvey, MBBS, DPhil
Format: Article
Language:English
Published: Elsevier 2025-08-01
Series:Journal of Allergy and Clinical Immunology: Global
Subjects:
STAT6 gain-of-function disease
inborn errors of immunity
primary atopic disorder
monogenic allergic disorder
Online Access:http://www.sciencedirect.com/science/article/pii/S2772829325000955
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