A 1-year-old male child, second born of a consanguineous marriage, was brought with history of recurrent fever and chest infections since birth. His elder female sibling had died at the age of 1 year due to a similar undiagnosed illness. Physical examination showed metallic sheen to hair and generalized albinism with hyperpigmented macules on the skin [Figure 1a and b]. Generalized lymphadenopathy and hepatosplenomegaly were noted. A complete blood count showed reduced total leukocyte count of 1800/l with neutropenia (neutrophils 12%, lymphocytes 82%, monocytes 4%, and eosinophils 2%). Platelets were reduced (100 10
