# Properdin deficiency associated with systemic meningococcal disease due to a novel p.Cys337Arg pathogenic variant

**Authors:** Laura González-Sánchez, Ana Mei Agudo, Anne Van Den Rym, María Isabel Begiristain, Alazne Saizar, Rebeca Pérez de Diego, Pilar Nozal, Alberto López-Lera, Margarita López-Trascasa, Fernando Corvillo

PMC · DOI: 10.1016/j.gendis.2023.101134 · Genes & Diseases · 2023-10-04

## Full-text entities

- **Diseases:** systemic meningococcal disease (MESH:D008589), Properdin deficiency (MESH:C537241)
- **Mutations:** p.Cys337Arg

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## References

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Source: https://tomesphere.com/paper/PMC11295456