Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels


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SASSİ A., LAZAROSKİ S., WU G., HASLAM S. M. , FLIEGAUF M., MELLOULI F., ...Daha Fazla

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, cilt.133, ss.1410-1432, 2014 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 133 Konu: 5
  • Basım Tarihi: 2014
  • Doi Numarası: 10.1016/j.jaci.2014.02.025
  • Dergi Adı: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
  • Sayfa Sayıları: ss.1410-1432

Özet

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.