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

Genes Dis. 2023 Oct 4;11(6):101134. doi: 10.1016/j.gendis.2023.101134. eCollection 2024 Nov.

Laura González-Sánchez^{1

2}, Ana Mei Agudo¹, Anne Van Den Rym³, María Isabel Begiristain⁴, Alazne Saizar⁴, Rebeca Pérez de Diego³, Pilar Nozal^{1

2

5}, Alberto López-Lera^{1

2}, Margarita López-Trascasa^{1

6}, Fernando Corvillo^{1

2}

¹ Complement Research Group, Hospital La Paz Institute for Health Research (IdiPAZ), La Paz University Hospital, Madrid 28046, Spain.
² Center for Biomedical Network Research on Rare Diseases, Madrid, Spain.
³ Laboratory of Immunogenetics of Human Diseases, IdiPAZ Institute for Health Research, La Paz University Hospital, Madrid 28046, Spain.
⁴ Ormaiztegui Clinic, Guipúzcoa 20216, Spain.
⁵ Immunology Unit, La Paz University Hospital, Madrid 28046, Spain.
⁶ Departamento de Medicina, Universidad Autónoma de Madrid, Madrid 28029, Spain.

No abstract available