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Candidiasis mucocutánea crónica en humanos con errores congénitos de inmunidad a la interleucina-17
Anne Puel1, Sophie Cypowyj, Jacinta Bustamante
1Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale, U980, and University Paris Descartes, Necker Medical School, 75015 Paris, France. anne.puel@inserm.fr
Science (New York, N.Y.)
|February 26, 2011
Resumen
Dos defectos genéticos en el receptor de interleucina-17 A (IL-17RA) e interleucina-17F (IL-17F) causan la enfermedad de candidiasis mucocutánea crónica (CMCD). Estos hallazgos resaltan el papel crítico de la señalización de IL-17 en la inmunidad contra Candida albicans.
Área de la Ciencia:
- Inmunología Inmunología.
- Genética La genética.
- Dermatología Dermatología dermatología.
Sus antecedentes:
- La enfermedad de candidiasis mucocutánea crónica (CMCD) implica infecciones persistentes de la piel, las uñas y las mucosas por Candida albicans.
- Los pacientes con CMCD generalmente carecen de otras afecciones infecciosas o autoinmunes.
Objetivo del estudio:
- Para identificar las causas genéticas de la CMCD.
- Para aclarar el papel de la vía de la interleucina-17 (IL-17) en la inmunidad mucocutánea.
Principales métodos:
- Estudio de caso de dos pacientes con deficiencias genéticas distintas.
- Análisis de la deficiencia autosómica recesiva en el receptor A de la interleucina-17 (IL-17RA).
- Análisis de la deficiencia autosómica dominante en la interleucina-17F (IL-17F). análisis de la deficiencia autosómica dominante en la interleucina-17F (IL-17F). análisis de la deficiencia autosómica dominante en la interleucina-17F (IL-17F).
Principales resultados:
- La deficiencia de IL-17RA abolió por completo las respuestas celulares a IL-17A e IL-17F.
- La deficiencia de IL-17F dio lugar a un deterioro parcial de la actividad de la IL-17.
- Ambas deficiencias condujeron a la susceptibilidad a las infecciones por Candida albicans.
Conclusiones:
- La IL-17A e IL-17F humanas son cruciales para la defensa mucocutánea contra la Candida albicans.
- Las deficiencias de IL-17RA e IL-17F representan etiologías genéticas distintas de la CMCD.
- La IL-17A y la IL-17F exhiben en gran medida funciones redundantes en la inmunidad mucocutánea.
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