Case Report: Dual molecular diagnosis of gain-of-function STAT1 mutation and regulatory STAT3 variant in a patient with a hyper-IgE-like phenotype
This case highlights the diagnostic complexity of overlapping IEI phenotypes and the value of combining targeted and WES strategies. This dual molecular diagnosis, comprising a regulatory variant in <i>STAT3</i> and a pathogenic coding mutation in <i>STAT1</i>, emphasizes the need to include non-coding regions in genetic analyses. It also underscores the value of using techniques that offer a broader genomic view and capture all coding exons, enabling a more comprehensive correlation with the clinical and immunological phenotype.
Authors
- Fatma Zahra Guerfali (ORCID: https://orcid.org/0000-0002-6973-2870)
- Najla Mekki (ORCID: https://orcid.org/0000-0002-5842-9147)
- Mohamed‐Ridha Barbouche (ORCID: https://orcid.org/0009-0009-4145-8644)
- Roukaya Yaakoubi
- Charfeddine Gharsallah (ORCID: https://orcid.org/0000-0003-2548-0509)
- YL Lau (ORCID: https://orcid.org/0000-0002-4780-0289)
- Amel Ben Chehida (ORCID: https://orcid.org/0000-0001-7880-3215)
- Imen Ben‐Mustapha (ORCID: https://orcid.org/0000-0002-3526-2890)
- Daniel Leung (ORCID: https://orcid.org/0000-0002-9360-6233)
- Meriem Ben‐Ali
- Koon-Wing Chan
- Ansem Ben-Hammadi
Institutions
- Inserm (FR)
- Institut Pasteur (FR)
- Université Paris Cité (FR)
- University of Rochester Medical Center (US)
- Hôpital La Rabta (TN)
- Institut Pasteur de Tunis (TN)
- Arabian Gulf University (BH)
- Tunis El Manar University (TN)
- University of Hong Kong (HK)
Publication Details
- Journal
- Frontiers in Immunology
- Published
- 2025-10-03
- DOI
- https://doi.org/10.3389/fimmu.2025.1646761
- Citations
- 1
- Primary Topic
- Immunodeficiency and Autoimmune Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.80
Funders
- Ministère de l'Education Nationale, de l'Enseignement Superieur et de la Recherche