VPS33A and Thrombocytopenia: 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.