<unk>  is a rare genetic disorder of the immune system associated with diminished phosphoglucomutase 3 function.<unk>  is an enzyme which in humans is encoded by gene<unk> . 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<unk>  mutations in nine patients from four consanguineous families. In the same year, a researchers from the laboratories of Joshua Milner and Helen Su at the National Institute of Allergy and Infectious Disease at the U.S. National Institutes of Health described<unk>  in eight additional patients from two families.
PGM3 deficiency
PMM2 deficiency
LRBA deficiency
NGLY1 deficiency
Factor I deficiency
CDKL5 deficiency disorder
Enolase deficiency
Factor X deficiency