Gordillo-Jiménez Z, Patrón-Chi E, Guzmán-Cotaya R, Gutiérrez-Juárez EI, Arias-León JJ, Palma-Chan AG, Espinosa-Padilla SE, Blancas-Galicia L, González-Reynoso A

Language: Spanish
References: 10
Page: 16-26
PDF size: 2374.55 Kb.

ABSTRACT

Introduction: inborn errors of immunity (IEI), formerly known as primary immunodeficiencies, are encompassed by monogenic disorders characterized by abnormalities in the immune system. Autoimmunity, autoinflammation, neoplasms, allergies, and increased susceptibility to severe infections are manifested by these disorders. Currently, 9,738 have been reported in Latin America, of which 2,288 cases are from Mexico. Objective: this article outlines a comprehensive clinical, immunological, and genetic approach to IEI. It emphasizes the significance of adequate medical training, the establishment of collaborative networks, and the implementation of advanced diagnostic tools to enable the timely identification of IEI patients at a hospital in Mérida. Material and methods: collaboration was initiated with a pediatric infectious disease specialist at a general hospital in Mérida, Yucatán. In cases where IEI was clinically suspected, diagnostic support was provided using specialized tests, such as next-generation sequencing, targeted gene panels, dihydrorhodamine (DHR) flow cytometry, and serum complement factor I analysis. Results: five male pediatric patients from rural communities in Yucatán with a confirmed diagnosis of IEI from 2022 to 2025 are presented. In all cases, pathogenic variants were identified through genetic testing, and the initial clinical suspicion was confirmed. Conclusions: IEI should be considered in patients with a history of severe infections or inflammatory and autoimmune manifestations. To the best of our knowledge, the patients reported here are the first cases described in the medical literature in Yucatán, Mexico, highlighting the need for the continued strengthening of the detection and study of these diseases in the region.

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