PGM3 deficiency
id:
pgm3-deficiency-313-12347783
title:
PGM3 deficiency
text:
PGM3 deficiency is a rare genetic disorder of the immune system associated with diminished phosphoglucomutase 3 function. PGM3 is an enzyme which in humans is encoded by gene PGM3. This disorder manifests as severe atopy, immune deficiency, autoimmunity, intellectual disability, and hypomyelination. In 2014, Investigators Atfa Sassi at the Pasteur Institute of Tunis, Sandra Lazaroski at the University Medical Center Freiburg, and Gang Wu at the Imperial College London, identified PGM3 mutations
brand slug:
wiki
category slug:
encyclopedia
description:
Genetic disorder
original url:
https://en.wikipedia.org/wiki/PGM3_deficiency
date created:
date modified:
2023-08-24T07:29:13Z
main entity:
{"identifier":"Q24975544","url":"https://www.wikidata.org/entity/Q24975544"}
image:
fields total:
13
integrity:
14