About: Nezelof syndrome

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Nezelof syndrome is an autosomal recessive congenital immunodeficiency condition due to underdevelopment of the thymus. The defect is a type of purine nucleoside phosphorylase deficiency with inactive phosphorylase, this results in an accumulation of deoxy-GTP which inhibits ribonucleotide reductase. Ribonucleotide reductase catalyzes the formation of deoxyribonucleotides from ribonucleotides, thus, DNA replication is inhibited.

Attributes	Values
rdf:type	Thing Disease yago:WikicatAutosomalRecessiveDisorders yago:WikicatNoninfectiousImmunodeficiency-relatedCutaneousConditions yago:Abstraction100002137 yago:Attribute100024264 yago:Cognition100023271 yago:Complex105870365 yago:Concept105835747 yago:Condition113920835 yago:Content105809192 yago:Disease114070360 yago:Disorder114052403 yago:Idea105833840 yago:IllHealth114052046 yago:Illness114061805 yago:PathologicalState114051917 yago:PhysicalCondition114034177 yago:PsychologicalFeature100023100 disease yago:State100024720 yago:Syndrome105870790 yago:Whole105869584 yago:WikicatSyndromes umbel-rc:AilmentCondition
rdfs:label	Síndrome de Nezelof (es) Syndrome de Nezelof (fr) Nezelof syndrome (en) Zespół Nezelofa (pl)
rdfs:comment	El síndrome de Nezelof, es una enfermedad rara que se incluye dentro de las inmunodeficiencias, grupo de trastornos en los que existe una deficiencia en la función inmune, y por lo tanto predisposición a las infecciones. (es) Nezelof syndrome is an autosomal recessive congenital immunodeficiency condition due to underdevelopment of the thymus. The defect is a type of purine nucleoside phosphorylase deficiency with inactive phosphorylase, this results in an accumulation of deoxy-GTP which inhibits ribonucleotide reductase. Ribonucleotide reductase catalyzes the formation of deoxyribonucleotides from ribonucleotides, thus, DNA replication is inhibited. (en) Le syndrome de Nezelof entre dans le cadre d'un déficit immunitaire congénital. Il existe une hypoplasie du thymus avec déficit de l'immunité cellulaire et une immunité humorale altérée malgré des taux d'immunoglobulines quantitativement normaux. Elle a été décrite par Christian Nezelof, pédiatre et pathologiste de l'Hôpital Necker-Enfants malades de Paris. Le code CIM-10 est D81.4. (fr) Zespół Nezelofa (ang. Nezelof syndrome) – zespół niedoboru odporności spowodowany dysplazją grasicy, najprawdopodobniej dziedziczony autosomalnie recesywnie. Ponieważ grasica jest nieczynna, niedobór odporności jest zależny od limfocytów T. Chorobę opisali Nezelof i wsp. w 1964 roku. (pl)
foaf:name	Nezelof syndrome (en)
name	Nezelof syndrome (en)
foaf:depiction
dcterms:subject	Autosomal recessive disorders Noninfectious immunodeficiency-related cutaneous conditions Immunodeficiency
Wikipage page ID	5624081 (xsd:integer)
Wikipage revision ID	1081985963 (xsd:integer)
Link from a Wikipage to another Wikipage	Antimicrobial Ribonucleotide reductase List of radiographic findings associated with cutaneous conditions Pyoderma Emphysema Blood circulation Autosomal recessive disorders Deoxyribonucleotides Autosomal Bronchiectasis Thymus Thymus transplantation Acquired immune deficiency syndrome Diarrhea Hepatosplenomegaly Purine nucleoside phosphorylase deficiency Noninfectious immunodeficiency-related cutaneous conditions Immunodeficiency Blood test Immunoglobulin Recessive Congenital Immunodeficiency Severe combined immunodeficiency Ribonucleotides B-cell Bone marrow transplantation Severe combined immunodeficiency syndrome T-cells dbr:Hassal's_corpuscles
Link from a Wikipage to an external page	https://www.ncbi.nlm.nih.gov/pubmed/ https://books.google.com/books%3Fid=hTI8arzsI-8C&q=Nezelof+syndrome&pg=PA34%7Ctitle=Thymus
sameAs	Nezelof syndrome Nezelof syndrome Nezelof syndrome Nezelof syndrome Nezelof syndrome Nezelof syndrome Nezelof syndrome Nezelof syndrome
dbp:wikiPageUsesTemplate	dbt:Cite_book dbt:Infobox_medical_condition_(new) dbt:Medical_citation_needed dbt:Medical_resources dbt:Reflist dbt:Rp dbt:Scholia dbt:Medicine dbt:Immune_disorders
thumbnail	wiki-commons:Special:FilePath/Autosomal_recessive_-_en.svg?width=300
diagnosis	Blood test (en)
DiseasesDB	29571 (xsd:integer)
ICD	279.130000 (xsd:double) (en) D81.4 (en)

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