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Purine nucleoside phosphorylase deficiency is a rare autosomal recessive metabolic disorder which results in immunodeficiency.
, Niedobór fosforylazy nukleozydów purynowyc … Niedobór fosforylazy nukleozydów purynowych inaczej niedobór PNP – bardzo rzadka, genetycznie uwarunkowana choroba, u podłoża której leży zaburzenie metaboliczne puryn, a klinicznie charakteryzuje się ona: postępującym niedoborem odporności z nawracającymi zakażeniami, zaburzeniem wzrostu, występowaniem schorzeń autoimmunologicznych, chorób nowotworowych oraz zaburzeniami neurologicznymi.orowych oraz zaburzeniami neurologicznymi.
, Le déficit en purine nucléoside phosphoryl … Le déficit en purine nucléoside phosphorylase entre dans le cadre d'un déficit immunitaire congénital. Il existe un déficit de l'immunité cellulaire et une anomalie de production de certains anticorps. Sa transmission est autosomique dominante. Le code CIM-10 est D81.5.
* Portail de la médecineIM-10 est D81.5.
* Portail de la médecine
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Purine nucleoside phosphorylase deficiency is a rare autosomal recessive metabolic disorder which results in immunodeficiency.
, Niedobór fosforylazy nukleozydów purynowyc … Niedobór fosforylazy nukleozydów purynowych inaczej niedobór PNP – bardzo rzadka, genetycznie uwarunkowana choroba, u podłoża której leży zaburzenie metaboliczne puryn, a klinicznie charakteryzuje się ona: postępującym niedoborem odporności z nawracającymi zakażeniami, zaburzeniem wzrostu, występowaniem schorzeń autoimmunologicznych, chorób nowotworowych oraz zaburzeniami neurologicznymi.orowych oraz zaburzeniami neurologicznymi.
, Le déficit en purine nucléoside phosphoryl … Le déficit en purine nucléoside phosphorylase entre dans le cadre d'un déficit immunitaire congénital. Il existe un déficit de l'immunité cellulaire et une anomalie de production de certains anticorps. Sa transmission est autosomique dominante. Le code CIM-10 est D81.5.
* Portail de la médecineIM-10 est D81.5.
* Portail de la médecine
|
| rdfs:label |
Niedobór fosforylazy nukleozydów purynowych
, Déficit en purine nucléoside phosphorylase
, Purine nucleoside phosphorylase deficiency
|
