JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, vol.133, no.5, pp.1410-1432, 2014 (SCI-Expanded)
Article / Article
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
Science Citation Index Expanded (SCI-EXPANDED), Scopus
Hyper-IgE syndrome, glycosylation, Staphylococcus aureus, signal transducer and activator of transcription 3, dedicator of cytokinesis 8, phosphoglucomutase 3, CONGENITAL DISORDERS, GLYCOSYLATION, DEFICIENCY, MUTASE, DOCK8, IDENTIFICATION, CLONING, DESIGN, PROBES, STAT3
Erciyes University Affiliated:
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 key step in the synthesis of uridine diphosphate N-acetylglucosamine, which is required for the biosynthesis of N-glycans.