STAT6 gain-of-function disease: p.D519N is a new disease-causing variant that responds well to dupilumab treatment
Simran Samra1,2, Eleanor Cook3,4,5, Jessica Wilson3
1Department of Pediatrics, British Columbia Children's Hospital, The University of British Columbia, Vancouver, British Columbia, Canada.
The Journal of Allergy and Clinical Immunology. Global
|June 12, 2025
Abstract:
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.
Keywords:
STAT6 gain-of-function diseaseinborn errors of immunitymonogenic allergic disorderprimary atopic disorderMore Related Videos
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