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

Saved in:

Bibliographic Details
Title:	From phenotypic to molecular diagnosis: Insights from a clinical immunology service focused on inborn errors of immunity in Colombia.
Alternate Title:	Del diagnóstico fenotípico al molecular: perspectivas desde un servicio de inmunología clínica enfocado en errores innatos de la inmunidad en Colombia.
Authors:	Fernandes-Pineda, Mónica¹, Zea-Vera, Andrés F.^2,3
Source:	Biomédica: Revista del Instituto Nacional de Salud. 2024 Supplement, Vol. 44, p168-177. 10p.
Subjects:	PRIMARY immunodeficiency diseases, CLINICAL immunology, DIAGNOSIS, MOLECULAR genetics, DIAGNOSTIC errors
Abstract (English):	Introduction. Inborn errors of immunity include a broad spectrum of genetic diseases, in which a specific gene mutation might alter the entire emphasis and approach for an individual patient. Objective. To conduct a comprehensive analysis of the correlation between phenotypic and molecular diagnoses in patients with confirmed inborn errors of immunity at a tertiary hospital in Cali, Colombia. Materials and methods. We conducted a retrospective study in which we sequentially evaluated all available institutional medical records with a diagnosis of inborn errors of immunity. Results. In the Clinical Immunology Service of the Hospital Universitario del Valle, 517 patients were evaluated. According to the IUIS-2022 classification, 92 patients (17.35%) were definitively diagnosed with an inborn error of immunity. Of these, 38 patients underwent genetic studies. The most prevalent category was predominantly antibody deficiencies (group III) (38/92 - 41.3%). A broad spectrum of genetic defects, novel and previously reported, were described, including mutations in the following genes: ATM, BTK, ERBIN, MAB21L2, RAG2, SAVI, SH2D1A, STAT1, SYK, and TMEM173. Less frequent findings included cases of the WHIM syndrome, SYK gain-of-function, and IL-7 deficiency. Conclusions. 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%). [ABSTRACT FROM AUTHOR]
Abstract (Spanish):	Introducción. Los errores innatos de la inmunidad incluyen un amplio espectro de enfermedades genéticas, en las cuales una mutación puede alterar completamente el enfoque y tratamiento de cada paciente. Objetivo. Hacer un análisis exhaustivo de la correlación entre los diagnósticos fenotípico y molecular de los pacientes con errores innatos de la inmunidad, confirmados en un hospital terciario de Cali, Colombia. Materiales y métodos. Se desarrolló un estudio retrospectivo mediante la evaluación secuencial de las historias clínicas de los pacientes con errores innatos de la inmunidad que habían consultado al Servicio de Inmunología Clínica del Hospital Universitario del Valle. Resultados. En el Servicio de Inmunología Clínica del Hospital Universitario del Valle se habían atendido 517 pacientes. Según la clasificación IUIS-2022, 92 pacientes (17,35 %) fueron diagnosticados con errores innatos de la inmunidad, de los cuales, 38 fueron sometidos a estudios genéticos. El grupo más prevalente de errores innatos de la inmunidad fue el de deficiencias predominantemente de anticuerpos (grupo III) (38/92 - 41.3 %). Se encontró un amplio espectro de defectos genéticos -nuevos y previamente reportados - incluyendo mutaciones en los genes ATM, BTK, ERBIN, MAB21L2, RAG2, SAVI, SH2D1A, STAT1, SYK y TMEM173. Entre los hallazgos menos frecuentes, se identificaron casos de síndrome de WHIM, aumento de la función del SYK y deficiencia de IL-7. Conclusiones. El establecimiento del Servicio de Inmunología Clínica del Hospital Universitario del Valle ha emergido como un recurso fundamental para atender a personas con recursos financieros limitados en el suroccidente colombiano. El diagnóstico genético se logró en 38 casos (41.3 %) de pacientes con errores innatos de la inmunidad y cambió el diagnóstico en 24 pacientes (26 %). [ABSTRACT FROM AUTHOR]
	Copyright of Biomédica: Revista del Instituto Nacional de Salud is the property of Instituto Nacional de Salud of Colombia and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Database:	MedicLatina

Description
Abstract:	Introduction. Inborn errors of immunity include a broad spectrum of genetic diseases, in which a specific gene mutation might alter the entire emphasis and approach for an individual patient. Objective. To conduct a comprehensive analysis of the correlation between phenotypic and molecular diagnoses in patients with confirmed inborn errors of immunity at a tertiary hospital in Cali, Colombia. Materials and methods. We conducted a retrospective study in which we sequentially evaluated all available institutional medical records with a diagnosis of inborn errors of immunity. Results. In the Clinical Immunology Service of the Hospital Universitario del Valle, 517 patients were evaluated. According to the IUIS-2022 classification, 92 patients (17.35%) were definitively diagnosed with an inborn error of immunity. Of these, 38 patients underwent genetic studies. The most prevalent category was predominantly antibody deficiencies (group III) (38/92 - 41.3%). A broad spectrum of genetic defects, novel and previously reported, were described, including mutations in the following genes: ATM, BTK, ERBIN, MAB21L2, RAG2, SAVI, SH2D1A, STAT1, SYK, and TMEM173. Less frequent findings included cases of the WHIM syndrome, SYK gain-of-function, and IL-7 deficiency. Conclusions. 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%). [ABSTRACT FROM AUTHOR]
ISSN:	01204157
DOI:	10.7705/biomedica.7533