Genomics role at the identification of patients with inborn errors of immunity

Primary immunodeficiencies or inborn errors of immunity are disorders affecting adaptive and/or innate immunity in the absence of a precipitating cause, with a predominantly genetic etiology. These pathologies predispose to recurrent infections, autoimmune diseases, oncological diseases, etc. We present the case of a pediatric patient who has a history of repeated urinary infections, generalized lymphadenopathy, myositis, without syndromic phenotype, no neurocognitive compromise, in multidisciplinary and pharmacological management with little response, and immuno-rheumatological, infectious extension studies often fail to provide a specific diagnosis. Due to the complexity of such cases, a targeted genetic study was initiated, involving the sequencing of a gene panel associated with immunodeficiencies, utilizing Next-Generation Sequencing (NGS) methodology. The genetic study revealed a clinically significant, probably pathogenic, heterozygous variant in the TNFRSF13B gene, which is associated with common variable immunodeficiency. Advancements in diagnosis through genomic studies now enable the establishment of phenotype/endotype/genotype connections. This facilitates specific diagnoses, the implementation of targeted and personalized therapeutic options, prediction of reactions, and long-term follow-up. Genetic counseling is also crucial. This approach aligns with the principles of 6P medicine with emphasis on precision, prevention, participation, prediction, personalization in order to be able to do it at the population level. It enables the development of curative target therapies aimed at reducing the morbidity and mortality associated with these hereditary, debilitating, and chronic conditions

• Fecha de publicación: 2023
• Institución: Pontificia Universidad Javeriana Cali
• Repositorio: Vitela
• Idioma: spa
• OAI Identifier: oai:vitela.javerianacali.edu.co:11522/490
• Acceso en línea: https://revistas.javerianacali.edu.co/index.php/salutemscientiaspiritus/article/view/690; https://vitela.javerianacali.edu.co/handle/11522/490
• Palabra clave: Errores innatos de la inmunidad; Genómica; NGS - Secuenciación de Nueva Generación; Inmunodeficiencia común variable; Gen TNFRSF13; Medicina 6P; Inborn errors of immunity,; Genomics; NGS - New Generation Sequencing; Common variable immunodeficiency; TNFRSF13 gene; 6P medicine
• License: Derechos de autor 2023 Salutem Scientia Spiritus