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%).

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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

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article

From phenotypic to molecular diagnosis: Insights from a clinical immunology service focused on inborn errors of immunity in Colombia

Andrés Felipe Zea-Vera, Mónica Fernandes-Pineda
Biomédica
Immunodeficiency and Autoimmune Disorders
article

From phenotypic to molecular diagnosis: Insights from a clinical immunology service focused on inborn errors of immunity in Colombia

Andrés Felipe Zea-Vera, Mónica Fernandes-Pineda
article en

Abstract

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%).

BiomédicaVol. 44(Sp. 2)
National Institutes of Health (US), ProPacífico (CO), National Institute of Allergy and Infectious Diseases (US), Universidad del Valle (CO)
Invitae, National Institutes of Health, National Institute of Allergy and Infectious Diseases
Openalex Percentile: Top 69%
Immunodeficiency and Autoimmune Disorders
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