About: Purine nucleoside phosphorylase deficiency

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Purine nucleoside phosphorylase deficiency is a rare autosomal recessive metabolic disorder which results in immunodeficiency.

Attributes	Values
rdf:type	Thing Disease yago:WikicatAutosomalRecessiveDisorders yago:WikicatNoninfectiousImmunodeficiency-relatedCutaneousConditions yago:Abstraction100002137 yago:Act100030358 yago:Attribute100024264 yago:Condition113920835 yago:Disease114070360 yago:Disorder114052403 yago:Event100029378 yago:IllHealth114052046 yago:Illness114061805 yago:Mistake100070965 yago:Nonaccomplishment100066216 yago:PathologicalState114051917 yago:PhysicalCondition114034177 yago:PsychologicalFeature100023100 yago:WikicatInbornErrorsOfPurine-pyrimidineMetabolism yago:YagoPermanentlyLocatedEntity disease yago:State100024720
rdfs:label	Déficit en purine nucléoside phosphorylase (fr) Purine nucleoside phosphorylase deficiency (en) Niedobór fosforylazy nukleozydów purynowych (pl)
rdfs:comment	Purine nucleoside phosphorylase deficiency is a rare autosomal recessive metabolic disorder which results in immunodeficiency. (en) 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 médecine (fr) 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. (pl)
foaf:name	Purine nucleoside phosphorylase deficiency (en)
name	Purine nucleoside phosphorylase deficiency (en)
foaf:depiction
dct:subject	Autosomal recessive disorders Combined T and B–cell immunodeficiencies Inborn errors of purine-pyrimidine metabolism Rare diseases Noninfectious immunodeficiency-related cutaneous conditions
Wikipage page ID	10890050 (xsd:integer)
Wikipage revision ID	1095099827 (xsd:integer)
Link from a Wikipage to another Wikipage	Purine dbr:Hypoxanthine United States University of Washington Eloise Giblett Enzyme Genetic carrier Autosomal recessive disorders Hemolytic anemia Purine nucleoside phosphorylase Adenosine deaminase deficiency Combined T and B–cell immunodeficiencies Inborn errors of purine-pyrimidine metabolism Chromosome Rare diseases B cell Hypotonia Noninfectious immunodeficiency-related cutaneous conditions Idiopathic thrombocytopenic purpura Purine metabolism Dominance (genetics) Autosome Inborn errors of metabolism Nezelof syndrome Chromosome 14 (human) Mental retardation Immunodeficiency Lupus erythematosus Lymphocyte Autoimmune disorder T-cell
sameAs	Purine nucleoside phosphorylase deficiency Purine nucleoside phosphorylase deficiency Purine nucleoside phosphorylase deficiency Purine nucleoside phosphorylase deficiency Purine nucleoside phosphorylase deficiency Purine nucleoside phosphorylase deficiency
dbp:wikiPageUsesTemplate	dbt:Citation_needed dbt:Infobox_medical_condition_(new) dbt:Medical_resources dbt:Reflist dbt:Immune_disorders dbt:Purine,_pyrimidine,_porphyrin,_bilirubin_metabolic_pathology
thumbnail	wiki-commons:Special:FilePath/Autosomal_recessive_-_en.svg?width=300
DiseasesDB	11044 (xsd:integer)
ICD	277.200000 (xsd:double) (en) D81.5 (en)
OMIM	613179 (xsd:integer)
Orphanet	760 (xsd:integer)
treatment	Allegeneic hemotopoietic stem cell transplantation (en)
caption	Purine nucleoside phosphorylase deficiency has an autosomal recessive pattern of inheritance. (en)
synonyms	PNP-deficiency (en)
has abstract	Purine nucleoside phosphorylase deficiency is a rare autosomal recessive metabolic disorder which results in immunodeficiency. (en) 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 médecine (fr) 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. (pl)
eMedicineSubj	ped (en)
eMedicineTopic	1957 (xsd:integer)
gold:hypernym	Disorder
dbp:wordnet_type	http://www.w3.org/2006/03/wn/wn20/instances/synset-disease-noun-1
ICD9	277.2
eMedicine subject	ped (en)

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