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Características clínicas y análisis genético de la insuficiencia de haploína A20

Fumin Xue^1,2, Chao An³, Zhi Lei⁴

¹Henan Key Laboratory of Children's Genetics and Metabolic Diseases, Children's Hospital Affiliated to Zhengzhou University, Zhengzhou, 450018, Henan, China. wwwxfm@126.com.

Orphanet journal of rare diseases

|August 27, 2025

Resumen

La haploinsuficiencia A20 (HA20) presenta diversos síntomas en los niños, a menudo comenzando antes de la edad de un año. La prueba genética de las mutaciones TNFAIP3 es clave para el diagnóstico, guiando el tratamiento individualizado para mejorar los resultados.

Área de la Ciencia:

Inmunología pediátrica
La genética
Gastroenterología

Sus antecedentes:

La haploinsuficiencia A20 (HA20) es un trastorno genético raro.
Se caracteriza por una amplia gama de manifestaciones clínicas.
El diagnóstico y el tratamiento tempranos son cruciales para el pronóstico del paciente.

Objetivo del estudio:

Describir las características clínicas y genéticas de cuatro pacientes con HA20.
Para analizar los resultados del tratamiento en casos pediátricos de HA20.
Destacar la importancia del diagnóstico genético en el tratamiento de la HA20.

Principales métodos:

Análisis retrospectivo de los datos clínicos, las pruebas genéticas y los resultados del tratamiento.
Centrarse en cuatro pacientes pediátricos con HA20 tratados entre 2015 y 2024.
Identificación de las mutaciones de TNFAIP3, incluidas las nuevas variantes y deleciones.

Principales resultados:

Todos los pacientes presentaron antes de la edad de un año con fiebre recurrente, dolor abdominal y diarrea.
Los síntomas comunes incluyen hematoquecia, aftosis y artritis.
Las pruebas genéticas confirmaron mutaciones TNFAIP3 en todos los casos, con nuevos hallazgos.
Las respuestas al tratamiento variaron, y algunos pacientes se beneficiaron de la nutrición enteral exclusiva, talidomida, infliximab o azatioprina.

Conclusiones:

HA20 exhibe una heterogeneidad clínica significativa.
Las pruebas genéticas son esenciales para un diagnóstico preciso y estrategias de tratamiento a medida.
Los enfoques terapéuticos individualizados pueden conducir a mejores resultados clínicos en pacientes con HA20.

Palabras clave:

A20 insuficiencia de haploína La mutación genética Enfermedad autoinflamatoria monogénica Resultado del tratamiento

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