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A Founder Effect of c.257+2T > C Mutation in NCF2 Gene Underlies Severe Chronic Granulomatous Disease in Eleven Patients

Archive ouverte | Ben-Farhat, Khaoula | CCSD

International audience. Chronic granulomatous disease (CGD) is the prototypic functional neutrophil disorder caused by genetic defects in one of the five genes encoding the superoxide-generating nicotinamide adenine...

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Archive ouverte | Garib, Victoria | CCSD

International audience. BackgroundThe specificities of IgE and IgG for allergen molecules in patients with inborn errors of immunity (IEI) have not been investigated in detail.ObjectiveTo study IgE and IgG antibody ...

Defective glycosylation leads to defective gp130-dependent STAT3 signaling in PGM3-deficient patients

Archive ouverte | Ben-Ali, Meriem | CCSD

International audience

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