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CARD9 p.R70W, a Turkish founder mutation associated with mucosal and invasive fungal infections, disrupts downstream NF-κB signaling by inhibiting Bcl10 recruitment
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A CARD9 Turkisch founder mutation disrupts NF-κB signaling by inhibiting Bcl10 recruitment
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CARD9 p.R70W, a Turkish founder mutation associated with mucosal and invasive fungal infections, disrupts downstream NF-κB signaling by inhibiting Bcl10 recruitment
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Molecular genetics of common variable immunodeficiency
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To B or not to B matured : a novel IKAROS haploinsufficiency kindred with unexpectedly late and variable B cell maturation defects
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To B or not to B matured : a novel IKAROS haploinsufficiency kindred with incomplete penetrance both at clinical and cellular level
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- Journal Article
- A1
- open access
Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes
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Early-onset common variable immunodeficiency as a cardinal manifestation challenges the diagnosis of Wiedemann-Steiner and Roifman syndromes
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Inflammasomes in inflammatory disease
(2016) EUROPEAN JOURNAL OF CLINICAL INVESTIGATION. In European Journal of Clinical Investigation 46(Supplement 1). p.99-99 -
CVID, isolated IgG deficiency and isolated IgG subclass deficiency : clinical features and B cell maturation of the Ghent cohort
(2016)