Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment
Background Identifying genetic syndromes that lead to significant atopic disease can open
new pathways for investigation and intervention in allergy. Objective We sought to define a
genetic syndrome of severe atopy, increased serum IgE levels, immune deficiency,
autoimmunity, and motor and neurocognitive impairment. Methods Eight patients from 2
families with similar syndromic features were studied. Thorough clinical evaluations,
including brain magnetic resonance imaging and sensory evoked potentials, were …
new pathways for investigation and intervention in allergy. Objective We sought to define a
genetic syndrome of severe atopy, increased serum IgE levels, immune deficiency,
autoimmunity, and motor and neurocognitive impairment. Methods Eight patients from 2
families with similar syndromic features were studied. Thorough clinical evaluations,
including brain magnetic resonance imaging and sensory evoked potentials, were …