Mental retardation is frequent. Infections are recurrent
and can include the orolaryngotracheal system, the lungs, meningitis, and diarrhea. Hemorrhagic signs can involve
epistaxis, oral bleeding, hematemesis, melena, petechiae, and purpura;
bleeding time is prolonged. Eczema is very frequent, nephropathy and signs of
autoimmunity are often observed, and there is an increased risk of
malignancy (particularly lymphoma). Laboratory investigations can show thrombocytopenia (with
small-size platelets), anemia (hemolytic, iron deficiency), small and large
vessel vasculitis, and sialophorin defectively expressed on surface of blood
cells. Immunological patterns concern depressed antibody response to
polysaccharide antigens, lymphopenia, abnormal delayed hypersensitivity skin
test, absent microvilli on the surface of peripheral blood lymphocytes,
increased IgA and IgE levels, decreased IgM levels, raised erythrocyte
sedimentation rate and C-reactive protein.