14th February 2024

A 2-year-old boy presents with recurrent skin infections and pneumonia throughout his infancy

A 2-year-old boy presents with recurrent skin infections and pneumonia throughout his infancy, requiring hospitalisation during some episodes. He had mild episodes of recurrent, self-limiting epistaxis and gum bleeding. One of his siblings had passed away at age two due to recurrent infections. Examination revealed patches of hypopigmented regions on his skin. His hair has a metallic silvery appearance. Blood tests showed pancytopenia with predominant neutropoenia.

Which of the following diagnoses is likely?

Select the SINGLE most appropriate option from the list below. Select ONE option only.