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Secondary, we propose a model for prioritizing genetic investigations in these patients. Thirty\u2010four patients with CVID followed at Meyer Children's Hospital, IRCSS, were enrolled. Whole exome sequencing was performed according to the latest International Union of Immunological Societies 2022 update. Genetic variants were identified in 16 patients (47%), including known variants in SLC39A7, PRKCD, STAT3, NFKB1, PIK3R1, PLCG2, RFXANK, PRKDC, TNFRSF13B, and novel variants in SPI1, NFKB1, NFKB2. Comparing the Gene+ and Gene\u2212 cohorts, we demonstrated that a monogenic cause is more likely to be found in cases of early disease onset, positive family history, autoimmunity, lymphoproliferation, and specific immunological alterations. Using these criteria, we developed a pediatric monogenic CVID (Mo\u2010CVID) score to hypothesize when a CVID pediatric patient is more likely to carry a genetic mutation. A scoring system such as the Mo\u2010CVID score could help physicians prioritize genetic testing. Genetic analysis in CVID patients can help stratify patients into different disease entities to predict complications and prognosis, ensure appropriate genetic counseling, and personalize treatment.<\/jats:p>","DOI":"10.1002\/eji.202451433","type":"journal-article","created":{"date-parts":[[2025,3,13]],"date-time":"2025-03-13T09:39:28Z","timestamp":1741858768000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Monogenic Common Variable Immunodeficiency (Mo\u2010CVID) Score for Optimizing the Genetic Diagnosis in Pediatric CVID Cohort"],"prefix":"10.1002","volume":"55","author":[{"given":"Federica","family":"Barbati","sequence":"first","affiliation":[{"name":"Pediatrics and Neonatology Unit Santo Stefano Hospital USL Toscana Centro  Prato Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorenzo","family":"Lodi","sequence":"additional","affiliation":[{"name":"Department of Neurofarba University 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