Episodio – IPEX, mutación de FOXP3 y disfunción de T reguladoras | USMLE Step 1

from USMLE DREAMERS · host USMLE DREAMERS

Lactante de 1 año con diabetes mellitus tipo 1 de inicio muy precoz, diarrea crónica con enteropatía autoinmune, falla de medro y dermatitis eccematosa. La biopsia de intestino delgado muestra atrofia vellosa con infiltrado linfocítico intenso y el perfil inmunológico revela hipergammaglobulinemia con niveles disminuidos de IL-10 (interleukina-10) y TGF-β (transforming growth factor-beta). El estudio genético identifica una mutación en FOXP3, hallazgos clásicos del síndrome IPEX (Immune dysregulation, Polyendocrinopathy, Enteropathy, X-linked) por disfunción de linfocitos T reguladores (Treg).#USMLE #Step1 #IPEX #FOXP3 #Treg #IL10 #TGFbeta #Autoinmunidad #Inmunología #USMLEDreamers

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Episodio – IPEX, mutación de FOXP3 y disfunción de T reguladoras | USMLE Step 1

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