Inmunodeficiencia combinada severa (IDCS) en la infancia: análisis de la situación en Costa Rica para una mejor visibilización y diagnóstico

Abstract

Severe combined immunodeficiency (SCID) is a disease belonging to the group of primary immunodeficiencies (IDP). It is caused by genetic mutations linked to the X chromosome that affect the function and production of T cells, B cells, and natural killer (NK) cells, which are important for the functioning of the immune system. Children with IDCS are particularly susceptible to severe and recurrent infections during their first months of life, underscoring the significance of prompt diagnosis and initiation of treatment. In Costa Rica, IDCS accounts for 9.8% of the 298 reported cases of IDP, with a prevalence of 3.3 per 100,000 inhabitants. Hematopoietic stem cell transplantation (HSCT) represents the most effective treatment option, offering the potential for a cure if performed during the first months of life. Economic and psychological complications represent a significant challenge for Costa Rican children and families. In this context, La Caja Costarricense de Seguro Social ("CCSS”, the Costa Rican Social Security Fund) plays a crucial role in providing comprehensive support and mitigating the costs of diagnostic tests and treatments. Consequently, the objective of this review report is to analyze the situation of severe combined immunodeficiency in Costa Rica in order to enhance visibility and diagnosis.