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El enigma JAK/STAT con la heterogeneidad mutacional, los defectos inmunológicos y el surgimiento de terapias

Durmus Burak Demirkaya^1,2,3, Burkay Cagan Colak^1,2,3, Asena Pinar Sefer⁴

¹Division of Pediatric Allergy and Immunology, Faculty of Medicine, Marmara University, Istanbul, Türkiye.

Expert review of clinical immunology

|August 22, 2025

Resumen

La desregulación de la vía Janus kinase / transductor de señal y activador de la transcripción (JAK / STAT) causa trastornos inmunológicos. La comprensión de estas anomalías de la vía JAK / STAT es clave para desarrollar terapias dirigidas para mejores resultados en los pacientes.

Área de la Ciencia:

Inmunología
Biología molecular
La genética

Sus antecedentes:

La vía Janus kinase / transductor de señal y activador de la transcripción (JAK / STAT) es vital para la regulación inmune, el control de la señalización de citoquinas, la proliferación celular, la diferenciación y la apoptosis.
Las mutaciones en esta vía pueden conducir a errores congénitos de inmunidad y trastornos inmunomediados.
Comprender la base molecular de la disfunción de la vía JAK/STAT es crucial para un diagnóstico preciso y el desarrollo de un tratamiento eficaz.

Objetivo del estudio:

Proporcionar una visión global de la vía de señalización JAK/STAT.
Discutir los aspectos estructurales y funcionales de las proteínas JAK/STAT.
Revisar las consecuencias inmunopatológicas de las mutaciones de ganancia de función en STAT1, STAT3 y STAT6.

Principales métodos:

Se realizó una búsqueda bibliográfica en PubMed y MEDLINE hasta junio de 2025.
La revisión sintetiza la información sobre la regulación de la vía JAK/STAT y los mecanismos de la enfermedad.
Se evalúan críticamente los avances clínicos y las estrategias terapéuticas, incluidos los inhibidores de JAK (JAKinibs).

Principales resultados:

Las enfermedades de ganancia de función de STAT1, STAT3 y STAT6 están relacionadas con la desregulación inmune.
Los inhibidores de JAK (JAKinibs) representan un avance terapéutico significativo.
La integración de conocimientos moleculares en la práctica clínica es esencial para el manejo de estos trastornos.

Conclusiones:

Los avances en la comprensión de la desregulación de la vía JAK / STAT permiten enfoques de medicina de precisión.
Se necesita más investigación para optimizar las terapias con JAKinib, identificar biomarcadores y mejorar la selección de pacientes.
Las nuevas terapias dirigidas son prometedoras para transformar el manejo de las enfermedades relacionadas con JAK/STAT.

Palabras clave:

Inhibidores de la JAK JAK y STAT Ganancia de función STAT1 Ganancia de función STAT3 STAT6 ganancia de función errores innatos de inmunidad

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