From phenotypic to molecular diagnosis: Insights from a clinical immunology service focused on inborn errors of immunity in Colombia
The establishment of the Clinical Immunology Service in the Hospital Universitario del Valle has emerged as a pivotal resource, catering to individuals with limited financial means and covered by public health insurance within the southwest region of Colombia. Molecular genetics confirmatory diagnosis was achieved in 38 patients (41.3%) with inborn errors of immunity and changed the diagnosis in 24 cases (26%).
Authors
- Andrés Felipe Zea-Vera (ORCID: https://orcid.org/0000-0001-9127-3677)
- Mónica Fernandes-Pineda (ORCID: https://orcid.org/0000-0003-4891-543X)
Institutions
- National Institutes of Health (US)
- ProPacífico (CO)
- National Institute of Allergy and Infectious Diseases (US)
- Universidad del Valle (CO)
Publication Details
- Journal
- Biomédica
- Published
- 2024-12-23
- DOI
- https://doi.org/10.7705/biomedica.7533
- Primary Topic
- Immunodeficiency and Autoimmune Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Invitae
- National Institutes of Health
- National Institute of Allergy and Infectious Diseases