A 3-month-old boy presents with severe watery diarrhea, diffuse dermatitis, and poor feeding for 2 weeks. Vital signs show HR 128/min, RR 32/min, temperature 37.2°C, and BP 85/50 mmHg. He has early-onset insulin-dependent diabetes mellitus. Laboratory studies reveal absolute eosinophilia of 2,500/μL, elevated IgE levels, and normal thyroid function. Which of the following transcription factors is most likely defective?
- A)NF kappa B
- B)FOXP3GABARITO
- C)GATA3
- D)AIRE
- E)STAT1
Explicação
IPEX syndrome is due to FOXP3 deficiency, which impairs regulatory T cell development and function. Loss of peripheral tolerance causes severe autoimmune enteropathy, endocrinopathy including neonatal diabetes, dermatitis, and other autoimmune manifestations i... Ver explicação completa e trilha adaptativa →