Hypomorphic, homozygous mutations in Phosphoglucomutase 3 impair immunity and increase serum IgE levels

BACKGROUND: Recurrent bacterial and fungal infections, eczema and elevated serum IgE levels characterize patients with the hyper-IgE syndrome (HIES). Known genetic causes for HIES are mutations in STAT3 and DOCK8, involved in signal transduction pathways. However, glycosylation defects have not been...

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Gepubliceerd in:J Allergy Clin Immunol
Hoofdauteurs: Sassi, Atfa, Lazaroski, Sandra, Wu, Gang, Haslam, Stuart M., Fliegauf, Manfred, Mellouli, Fethi, Patiroglu, Turkan, Unal, Ekrem, Ozdemir, Mehmet Akif, Jouhadi, Zineb, Khadir, Khadija, Ben-Khemis, Leila, Ben-Ali, Meriem, Ben-Mustapha, Imen, Borchani, Lamia, Pfeifer, Dietmar, Jakob, Thilo, Khemiri, Monia, Asplund, A. Charlotta, Gustafsson, Manuela O., Lundin, Karin E., Falk-Sörqvist, Elin, Moens, Lotte N., Gungor, Hatice Eke, Engelhardt, Karin R., Dziadzio, Magdalena, Stauss, Hans, Fleckenstein, Bernhard, Meier, Rebecca, Prayitno, Khairunnadiya, Maul-Pavicic, Andrea, Schaffer, Sandra, Rakhmanov, Mirzokhid, Henneke, Philipp, Kraus, Helene, Eibel, Hermann, Kölsch, Uwe, Nadifi, Sellama, Nilsson, Mats, Bejaoui, Mohamed, Schäffer, Alejandro A., Edvard Smith, C. I., Dell, Anne, Barbouche, Mohamed-Ridha, Grimbacher, Bodo
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2014
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Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4825677/
https://ncbi.nlm.nih.gov/pubmed/24698316
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jaci.2014.02.025
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