Background Recurrent bacterial and fungal infections, eczema, and increased serum IgE
levels characterize patients with the hyper-IgE syndrome (HIES). Known genetic causes for
HIES are mutations in signal transducer and activator of transcription 3 (STAT3) and
dedicator of cytokinesis 8 (DOCK8), which are involved in signal transduction pathways.
However, glycosylation defects have not been described in patients with HIES. One crucial
enzyme in the glycosylation pathway is phosphoglucomutase 3 (PGM3), which catalyzes a …