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Susceptibility to infections, without concomitant hyper-IgE, reported in 1976, is caused by hypomorphic mutation in the phosphoglucomutase 3 ( PGM3 ) gene

Journal Article published Dec 2015 in Clinical Immunology volume 161 issue 2 on pages 366 to 372

Research funded by FP7 project European Genetic Disease Diagnostics (Health-F5-2008-223293) | Medicinska Forskningsrådet | Stockholms Läns Landsting | Southeastern Norway Regional Health Authorities Technology Platform for Structural Biology and Bioinformatics (2012085)

Authors: Karin E. Lundin, Abdulrahman Hamasy, Paul Hoff Backe, Lotte N. Moens, Elin Falk-Sörqvist, Katja B. Elgstøen, Lars Mørkrid, Magnar Bjørås, Carl Granert, Anna-Carin Norlin, Mats Nilsson, Birger Christensson, Stephan Stenmark, C.I. Edvard Smith