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

• 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

Affiliations

Laura González-Sánchez

Complement Research Group, Hospital La Paz Institute for Health Research (IdiPAZ), La Paz University Hospital, Madrid 28046, Spain; Center for Biomedical Network Research on Rare Diseases, Madrid, Spain

Ana Mei Agudo

Complement Research Group, Hospital La Paz Institute for Health Research (IdiPAZ), La Paz University Hospital, Madrid 28046, Spain

Anne Van Den Rym

Laboratory of Immunogenetics of Human Diseases, IdiPAZ Institute for Health Research, La Paz University Hospital, Madrid 28046, Spain

María Isabel Begiristain

Ormaiztegui Clinic, Guipúzcoa 20216, Spain

Alazne Saizar

Ormaiztegui Clinic, Guipúzcoa 20216, Spain

Rebeca Pérez de Diego

Laboratory of Immunogenetics of Human Diseases, IdiPAZ Institute for Health Research, La Paz University Hospital, Madrid 28046, Spain

Pilar Nozal

Complement Research Group, Hospital La Paz Institute for Health Research (IdiPAZ), La Paz University Hospital, Madrid 28046, Spain; Center for Biomedical Network Research on Rare Diseases, Madrid, Spain; Immunology Unit, La Paz University Hospital, Madrid 28046, Spain

Alberto López-Lera

Complement Research Group, Hospital La Paz Institute for Health Research (IdiPAZ), La Paz University Hospital, Madrid 28046, Spain; Center for Biomedical Network Research on Rare Diseases, Madrid, Spain

Margarita López-Trascasa

Complement Research Group, Hospital La Paz Institute for Health Research (IdiPAZ), La Paz University Hospital, Madrid 28046, Spain; Departamento de Medicina, Universidad Autónoma de Madrid, Madrid 28029, Spain

Fernando Corvillo

Complement Research Group, Hospital La Paz Institute for Health Research (IdiPAZ), La Paz University Hospital, Madrid 28046, Spain; Center for Biomedical Network Research on Rare Diseases, Madrid, Spain; Corresponding author. Complement Research Group, Hospital La Paz Institute for Health Research (IdiPAZ), La Paz University Hospital, Paseo de la Castellana, 261, Madrid 28046, Spain.