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Déficit del antagonista en el receptor de la interleucina 36 (DITRA) / Interleukin-36 receptor antagonist deficiency
Resumen
Objetivo: Describir los elementos esenciales para el diagnóstico del síndrome por déficit del antagonista en el receptor de la interleucina 36.
Métodos: Se realizó una revisión de artículos publicados en las bases de datos PubMed, MEDLINE, SciELO, Scopus, Lilacs y BVS.
Enfermedades autoinflamatorias y su clasificación: Se distinguen tres grandes grupos; síndromes relacionados con el inflamosoma (son los más frecuentes), síndromes no relacionados con el inflamosoma y las interferonopatías.
Deficiencias del antagonista en el receptor de IL-36 (DITRA): Es una enfermedad monogénicas autosómica recesiva, debida a mutaciones con pérdida de función del gen IL-36 RN, que codifica para el antagonista del receptor de la interleucina 36.
Manifestaciones clínicas del DITRA: Se caracteriza por manifestaciones de psoriasis pustulosa, fiebre, distrofia ungueal, artritis y colangitis.
Diagnóstico de las enfermedades autoinflamatorias: Debe estar guiado por el reconocimiento de signos clínicos, presencia de reactante de fase aguda, patrón de herencia, edad de comienzo, origen étnico y estudio genético.
Tratamiento de la DITRA: Es difícil. los pacientes requieren el uso de terapia biológica. Otra modalidad terapéutica novedosa es la aféresis de absorción de granulocitos y monocitos.
Conclusiones: La deficiencia del antagonista en el receptor de la interleucina 36 es una enfermedad infrecuente y su diagnóstico es complejo. Fármacos monoclonales han sido exitosos en algunos pacientes y presentan un perfil de seguridad superior a los anti-TNF y los inhibidores de la IL-1.
Palabras clave
Referencias
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