Autosomal Recessive Phosphoglucomutase 3 (PGM3) Mutations Link Glycosylation Defects to Atopy, Immune Deficiency, Autoimmunity, and Neurocognitive Impairment

Y Zhang, X Yu, M Ichikawa. J Allergy Clin Immunol. 2014;133(5):1400–1409, 1409.e1–5 The goal of this study was to investigate the clinical, laboratory, and molecular characteristics of patients with similar findings, including immunodeficiency, significant atopy, immune dysregulation, and neurocognitive developmental defects. Eight patients from 2 different families underwent clinical, laboratory, and genetic evaluation. Patients were assessed clinically followed by an immunologic evaluation and whole-exome sequencing, directed Sanger sequencing, and specific ex vivo biochemical studies. All patients had a history of significant atopic dermatitis as well as other allergic findings, including asthma, food allergy, and/or environmental allergy. Staphylococcal soft tissue infections, …