A 6-year-old boy presents with recurrent pyogenic infections and progressive neurologic decline. Vital signs show HR 102 bpm, RR 24/min, BP 98/62 mmHg, temperature 37.2°C. He exhibits nystagmus, partial oculocutaneous albinism, and distal peripheral neuropathy. Physical examination reveals no hepatosplenomegaly. Peripheral blood smear demonstrates giant granules within neutrophils. Serum immunoglobulin levels are normal. Which of the following chromosomal locus mutation best explains these findings?
- A)Defect in C1 esterase inhibitor
- B)Defect in lysyl oxidase
- C)Defect in beta 2 integrin
- D)Defect in microtubule trafficking with impaired phagolysosome fusionGABARITO
- E)Defect in NADPH oxidase
Explicação
Chediak Higashi syndrome is caused by a defect in lysosomal trafficking, leading to impaired phagolysosome fusion and abnormal granule formation. The combination of recurrent infections, albinism, neuropathy, and giant granules is classic. Ver explicação completa e trilha adaptativa →