Chédiak–Higashi syndrome
id:
ch-diak-higashi-syndrome-247-11411421
title:
Chédiak–Higashi syndrome
text:
Chédiak–Higashi syndrome (CHS) is a rare autosomal recessive disorder that arises from a mutation of a lysosomal trafficking regulator protein, which leads to a decrease in phagocytosis. The decrease in phagocytosis results in recurrent pyogenic infections, albinism, and peripheral neuropathy. In Chédiak–Higashi syndrome, the lysosomal trafficking regulator (LYST) gene is mutated, leading to disruption of protein synthesis as well as the storage and secretory function of lysosomal granules in wh
brand slug:
wiki
category slug:
encyclopedia
description:
Medical condition
original url:
https://en.wikipedia.org/wiki/Ch%C3%A9diak%E2%80%93Higashi_syndrome
date created:
date modified:
2024-01-13T19:21:17Z
main entity:
{"identifier":"Q934034","url":"https://www.wikidata.org/entity/Q934034"}
image:
{"content_url":"https://upload.wikimedia.org/wikipedia/commons/f/f1/Autosomal_recessive_-_en.svg","width":738,"height":1283}
fields total:
13
integrity:
15