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.
Authors
- Henry Y. Lu (ORCID: https://orcid.org/0000-0002-1645-7748)
- David Yao (ORCID: https://orcid.org/0000-0002-2232-524X)
- Rebecca Marsh (ORCID: https://orcid.org/0000-0002-9645-0617)
- Jessica Wilson (ORCID: https://orcid.org/0000-0001-8530-8263)
- Eleanor Cook
- Liam Golding (ORCID: https://orcid.org/0000-0002-8851-8052)
- Mehul Sharma (ORCID: https://orcid.org/0000-0002-9591-0415)
- Simran Samra (ORCID: https://orcid.org/0000-0002-8026-3139)
Institutions
- Cincinnati Children's Hospital Medical Center (US)
- University of British Columbia (CA)
- Sydney Children's Hospital (AU)
- BC Children's Hospital (CA)
- University of Cincinnati Medical Center (US)
Publication Details
- Journal
- Journal of Allergy and Clinical Immunology Global
- Published
- 2025-05-09
- DOI
- https://doi.org/10.1016/j.jacig.2025.100494
- Citations
- 3
- Primary Topic
- Immunodeficiency and Autoimmune Disorders
- Type
- article
- Field-Weighted Citation Impact
- 2.39
Funders
- Genome British Columbia
- Canada Research Chairs
- University of British Columbia
- Canadian Institutes of Health Research