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

SASSİ, Atfa; LAZAROSKİ, Sandra; WU, Gang; HASLAM, Stuart; FLIEGAUF, Manfred; MELLOULI, Fethi; PATIROĞLU, TÜRKAN; ÜNAL, EKREM; Ozdemir, Mehmet; JOUHADI, Zineb; KHADIR, Khadija; BEN-KHEMIS, Leila; BEN-ALI, Meriem; BEN-MUSTAPHA, Imen; BORCHANI, Lamia; PFEIFER, Dietmar; JAKOB, Thilo; KHEMIRI, Monia; ASPLUND, A.; GUSTAFSSON, Manuela; LUNDIN, Karin; FALK-SOERQVIST, Elin; MOENS, Lotte; GUNGOR, Hatice; ENGELHARDT, Karin; DZIADZIO, Magdalena; STAUSS, Hans; FLECKENSTEIN, Bernhard; MEIER, Rebecca; PRAYITNO, Khairunnadiya; MAUL-PAVICIC, Andrea; SCHAFFER, Sandra; RAKHMANOV, Mirzokhid; HENNEKE, Philipp; KRAUS, Helene; EIBEL, Hermann; KOELSCH, Uwe; NADIFI, Sellama; NILSSON, Mats; BEJAOUI, Mohamed; SCHAEFFER, Alejandro; SMITH, C.; DELL, Anne; BARBOUCHE, Mohamed-Ridha; GRIMBACHER, Bodo

doi:10.1016/j.jaci.2014.02.025

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

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

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, cilt.133, sa.5, ss.1410-1432, 2014 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 133 Sayı: 5
Basım Tarihi: 2014
Doi Numarası: 10.1016/j.jaci.2014.02.025
Dergi Adı: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.1410-1432
Anahtar Kelimeler: Hyper-IgE syndrome, glycosylation, Staphylococcus aureus, signal transducer and activator of transcription 3, dedicator of cytokinesis 8, phosphoglucomutase 3
Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
Erciyes Üniversitesi Adresli: Evet

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.