A 5 year old girl is evaluated for recurrent pyogenic infections and progressive difficulty walking. Her parents report that she bruises easily and that her hair and skin have always been unusually light. Peripheral smear shows giant granules in neutrophils. Which of the following cellular defects is most likely present?
- A)Absent respiratory burst due to NADPH oxidase deficiency
- B)Deficiency of terminal complement components
- C)Defective thymic development due to 22q11 deletion
- D)Failure of class switching due to CD40 ligand deficiency
- E)Defective phagolysosome fusion due to microtubule dysfunctionGABARITO
Explicação
Chediak Higashi syndrome is caused by a lysosomal trafficking defect that impairs microtubule dependent phagolysosome fusion. Recurrent pyogenic infections, partial albinism, peripheral neuropathy, and giant granules in neutrophils point directly to this diagn... Ver explicação completa e trilha adaptativa →