ArticleJournal of human immunity2026
Does CVID exist in children? A genetic architecture and manifestation map derived from 7,525 patients.
Article in Journal of human immunity, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Abstract
Diagnosing common variable immunodeficiency (CVID) in childhood remains contentious, as monogenic inborn errors of immunity (IEIs) are increasingly recognized in CVID-like phenotypes. We analyzed 7,525 ESID Registry patients with a clinical diagnosis of CVID to investigate age-dependent genetic architecture and associated phenotypes. Among living CVID patients, monogenic defects were identified in 82 of 251 children younger than 18 years (32.7%) versus 447 of 5,225 adults (8.6%; OR: 5.18, 95% CI: 3.86-6.92). Pediatric-onset disease (<18 years) likewise demonstrated increased monogenic underpinnings (OR: 1.88, 95% CI: 1.56-2.27), strongest with onset before 4 years (OR: 2.99, 95% CI: 2.38-3.78). Monogenic "CVID" was more likely associated with immune dysregulation at presentation (OR: 1.98, 95% CI: 1.66-2.36) and negatively linked to infection-predominant manifestations (OR: 0.67, 95% CI: 0.56-0.81). Physician-entered "additional-gene" annotations suggested multigene constellations in 1.6% of patients and identified recurrently recorded variants in other IEI-associated genes, including
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