Nezelof syndrome
id:
nezelof-syndrome-264-4916013
title:
Nezelof syndrome
text:
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.
brand slug:
wiki
category slug:
encyclopedia
description:
Medical condition
original url:
https://en.wikipedia.org/wiki/Nezelof_syndrome
date created:
date modified:
2022-04-10T19:30:38Z
main entity:
{"identifier":"Q3508681","url":"https://www.wikidata.org/entity/Q3508681"}
image:
{"content_url":"https://upload.wikimedia.org/wikipedia/commons/f/f1/Autosomal_recessive_-_en.svg","width":738,"height":1283}
fields total:
13
integrity:
15