HY USMLE Q #1349 – Immuno

A 3-year-old boy is brought to the physician by his mother for recurrent skin and respiratory infections. His mother report that he has had multiple episodes of pneumonia and cellulitis for the past couple years. On exam, he has silvery hair, nystagmus, and mild hepatosplenomegaly. He has fairer skin compared to his 6-year-old sister. A peripheral blood smear shows neutrophils containing giant granules. Which of the following is most likely characteristic of this patient’s condition?

  Autosomal dominant; Defective fusion of phagosomes with lysosomes in neutrophils
  Autosomal dominant; Deficient expression of integrins required for neutrophil adhesion to endothelium
  Autosomal dominant; Impaired impaired interleukin receptor function
  Autosomal dominant; Impaired NADPH oxidase activity leading to defective respiratory burst
  Autosomal dominant; Impaired T cell cytoskeletal rearrangement leading to defective immune synapse formation
  Autosomal recessive; Defective fusion of phagosomes with lysosomes in neutrophils
  Autosomal recessive; Deficient expression of integrins required for neutrophil adhesion to endothelium
  Autosomal recessive; Impaired impaired interleukin receptor function
  Autosomal recessive; Impaired NADPH oxidase activity leading to defective respiratory burst
  Autosomal recessive; Impaired T cell cytoskeletal rearrangement leading to defective immune synapse formation
  X-linked recessive; Defective fusion of phagosomes with lysosomes in neutrophils
  X-linked recessive; Deficient expression of integrins required for neutrophil adhesion to endothelium
  X-linked recessive; Impaired impaired interleukin receptor function
  X-linked recessive; Impaired NADPH oxidase activity leading to defective respiratory burst
  X-linked recessive; Impaired T cell cytoskeletal rearrangement leading to defective immune synapse formation

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