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| purine nucleoside phosphorylase deficiency ： ウィキペディア英語版 |
purine nucleoside phosphorylase deficiency
Purine nucleoside phosphorylase deficiency, often called PNP-deficiency, is a rare autosomal recessive metabolic disorder which results in immunodeficiency.
==Signs and symptoms==
In addition to the symptoms associated with immunodeficiency, such as depletion of T-cells, decline of lymphocyte activity, and an abrupt proliferation of both benign and opportunistic infections, PNP-deficiency is often characterized by the development of autoimmune disorders. lupus erythematosus, autoimmune hemolytic anemia, and idiopathic thrombocytopenic purpura have been reported with PNP-deficiency.
Neurological symptoms, such as developmental decline, hypotonia, and mental retardation have also been reported.
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