ImmunoDeficiency Resource (IDR)

The clinical presentation of PNP deficiency includes reccurent infections of the upper and lower respiratory tract due to common bacterial pathogens, viruses, or opportunistic infections such as Candida albicans and Pneumocystis carinii. Infections typically have an onset in infancy. Neurologic symptoms develop in more than one-half of PNP deficient children. These neurologic problems include spastic diplegia or tetraparesis, ataxia, tremor, retarded motor development, hyper-or hypotonia, behavioral difficulties, and varying degrees of mental retardation. PNP deficiency also is associated with increased risk of autoimmune disorders, such as autoimmune hemolytic anemia, immune thrombocytopenia, neutropenia, thyroiditis, and lupus. Some of these patients developed cancer.