Monogenic Common Variable Immunodeficiency (Mo‐CVID) Score for Optimizing the Genetic Diagnosis in Pediatric CVID Cohort - Barbati, Federica; Lodi, Lorenzo; Boscia, Silvia; Cortimiglia, Martina; Calistri, Elisa; Quaranta, Francesca; Maggi, Laura; Mazzoni, Alessio; Palterer, Boaz; Annunziato, Francesco; Azzari, Chiara; Ricci, Silvia (European journal of immunology, 2025)
Keywords: Adolescent; Autoimmune diseases; Autoimmunity; Child; Child, Preschool; children; Cohort Studies; Common variable immunodeficiency; Common Variable Immunodeficiency - diagnosis; Common Variable Immunodeficiency - genetics; Common Variable Immunodeficiency - immunology; Diagnosis; Exome Sequencing; Female; Genetic analysis; Genetic counseling; Genetic diversity; Genetic Predisposition to Disease; Genetic screening; Genetic Testing - methods; Humans; Immune system; Immunodeficiencies and Autoimmunity; Immunology; Male; Mutation; Patients; Pediatrics; primary immunodeficiency; prioritization; Stat3 protein; Whole genome sequencing; primary immunodeficiency; exome sequencing; common variable immunodeficiency; children; prioritization