Câu 55: USMLE: United States Medical Licensing Examination

A 25-day-old male is brought to the physician due to seizures, rigidity and frequent viral infections. Physical examination reveals a neonate with cyanosis in the lower extremities. The most likely cause of these findings is a

1. A. defect in the IL-2R gamma chain
2. B. defect in the lysosomal trafficking regulation gene
3. C. defect in the tyrosinase kinase gene
4. D. deletion in chromosome 22q11.2 — đáp án hiện tại
5. E. mutation in the STAT3 gene