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Article

Monogenic Common Variable Immunodeficiency (Mo-CVID) Score for Optimizing the Genetic Diagnosis in Pediatric CVID Cohort.

European journal of immunology - 1 Mar 2025

Barbati Federica, Lodi Lorenzo, Boscia Silvia, Cortimiglia Martina, Calistri Elisa, Quaranta Francesca, Maggi Laura, Mazzoni Alessio, Palterer Boaz, Annunziato Francesco, Azzari Chiara, Ricci Silvia

Abstract excerpt

Common variable immunodeficiency (CVID) represents an "umbrella" diagnosis due to its clinical and immunological heterogeneity. The primary objective of this study was to describe a cohort of CVID pediatric subjects from clinical, immunological, and genetic viewpoints. Secondary, we propose a model for prioritizing genetic investigations in these patients. Thirty-four patients with CVID followed at Meyer...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 40079712
DOI: 10.1002/eji.202451433
PMCID: PMC11905875

Genes

NFKB1
NFKB2
PLCG2
PRKCD
PRKDC
SLC39A7
SPI1
STAT3
TNFRSF13B

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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