Article
Genetics in a Danish Common Variable Immunodeficiency Cohort.
Journal of clinical immunology - 2 Jun 2025
Drabe Camilla Heldbjerg, Laustsen Mira Marie, Marquart Hanne Vibeke, Hartling Hans Jakob, Marvig Rasmus L, Helweg-Larsen Jannik, Hansen Ann-Brit Eg, Lundgren Jens, Helleberg Marie, Borgwardt Line, Katzenstein Terese L
Abstract excerpt
PURPOSE: Genetics of Common Variable Immunodeficiency (CVID) is complex and not fully elucidated. This study presents the clinical and genetic findings of a Danish CVID cohort and investigate whether initial genetic findings can be re-classified upon re-evaluation years later in time. METHODS: From 2016 to 2021, individuals with CVID or a CVID-like-phenotype were examined using whole exome or whole genome...
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