… The primary immunodeficiency diseases (PIDs) include … these diseases, delayed diagnosis,
and underreporting [8]. … Genetic analysis has made it possible to establish associations …

… diagnosis of PID can increase diagnostic yield and further our understanding of the key
pathways that influence immune … those identified as causing immune disease in the HGMD Pro …

… in the general population, meaning that they meet the criteria for rare diseases (< 0.05% in
… primary immunodeficiencies (PIDs) reported in the European Society for Immunodeficiencies …

… Primary immunodeficiency disorder … The diagnostic evaluation for primary immunodeficiency
and … between children and adults, we performed this analysis separately, showing that a …

… in patients with severe combined immunodeficiency (SCID) … ) programs and prompt genetic
diagnosis with Next Generation … , analysis of outcome at a later follow-up in this patient and in …

… standard immunological diagnostics some patients underwent extensive immune-… genetic
testing was not possible and thus these cases have not been included in our cohort analysis (…

… However, our study may strengthen the current understanding of the impact of the pandemic
… made individually for each patient based on their genetic diagnosis and medical condition […

… neoplastic tissue for disease-specific diagnostic alterations, … inborn genetic errors, not only
those in already known genes but … the genetic heterogeneity of these conditions, meaning that …

… important part in many primary immunodeficiency diseases (PID)s, … allows for rapid and
specific diagnosis and not least for … In conclusion, improved understanding of the genetic defects …

… given this diagnosis, as immaturity or other genetic causes … of genetic analysis of a large
and heterogeneous CVID patient … genes associated with a primary immune-deficiency disease, …