These patients also had marked systemic manifestations in common with infants with the p.Arg498Trp mutation in VPS33A and features shared with Chédiak−Higashi syndrome including neutropenia, splenomegaly, thrombocytopenia, vacuolised peripheral lymphocytes, and dense azurophilic granules in myeloid progenitor cells of bone marrow with susceptibility to infections. Here, VPS33A is linked to Decreased total neutrophil count.