Omenn syndrome
id:
omenn-syndrome-285-18162688
title:
Omenn syndrome
text:
Omenn syndrome is an autosomal recessive severe combined immunodeficiency. It is associated with hypomorphic missense mutations in immunologically relevant genes of T-cells such as recombination activating genes, Interleukin-7 receptor-α (IL7Rα), DCLRE1C-Artemis, RMRP-CHH, DNA-Ligase IV, common gamma chain, WHN-FOXN1, ZAP-70 and complete DiGeorge syndrome. It is fatal without treatment.
brand slug:
wiki
category slug:
encyclopedia
description:
Medical condition
original url:
https://en.wikipedia.org/wiki/Omenn_syndrome
date created:
date modified:
2023-10-27T14:37:39Z
main entity:
{"identifier":"Q2214419","url":"https://www.wikidata.org/entity/Q2214419"}
image:
{"content_url":"https://upload.wikimedia.org/wikipedia/commons/3/3e/Autorecessive.svg","width":1350,"height":1580}
fields total:
13
integrity:
15