Loss-of-function variant in MAGT1 leading to XMEN disease in a Colombian patient with a common variable immunodeficiency
We report the clinical case of the first Colombian male patient with a pathogenic variant in MAGT1 associated with XMEN disease. Genetic counseling and followup are recommended for families with similar cases to allow prompt detection of new cases.
Authors
- Claudia M. Trujillo‐Vargas (ORCID: https://orcid.org/0000-0001-8546-2666)
- José Luis Franco (ORCID: https://orcid.org/0000-0001-5664-6415)
- Julio César Orrego Arango (ORCID: https://orcid.org/0000-0002-3809-9187)
- Sebastián Gutiérrez-Hincapié (ORCID: https://orcid.org/0000-0002-1576-595X)
Institutions
- Universidad de Antioquia (CO)
Publication Details
- Journal
- Biomédica
- Published
- 2024-12-23
- DOI
- https://doi.org/10.7705/biomedica.7636
- Primary Topic
- Immunodeficiency and Autoimmune Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Texas Children's Hospital