| Purine nucleoside phosphorylase deficiency; PNP deficiency |
Failure to thrive; sinusitis; otitis media; cerebral vasculitis; atrophic tonsils; recurrent upper respiratory tract infections; recurrent lower respiratory tract infections; pneumonia; splenomegaly; urinary tract infections; spastic diplegia; tetraparesis; ataxia; tremor; motor retardation; hypertonia; muscular hypotonia; behavioral disturbances; mental retardation; cerebral vasculitis; autoimmune hemolytic anemia; idiopathic thrombocytopenia; autoimmune neutropenia; frequent bacterial, viral, and opportunistic infections; lymphopenia; small lymph nodes; aplasia/Hypoplasia of the thymus; marked depletion of lymphoid tissues; markedly depressed T lymphocyte proportion; markedly reduced T cell function; abnormal B cell function; defective antibody production; lymphoma; lymphosarcoma; reduced erythrocyte purine nucleoside phosphorylase activity; hypouricemia; hypouricosuria; high serum inosine levels; high serum guanosine levels; high urinary excretion of inosine, 2-deoxyinosine, guanosine, and 2-deoxyguanosine; normal B-cell count |
Combined T-cell and B-cell immunodeficiencies |
Autosomal recessive |