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Rapid Communication | Open Access

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

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
Laboratory of Immunogenetics of Human Diseases, IdiPAZ Institute for Health Research, La Paz University Hospital, Madrid 28046, Spain
Ormaiztegui Clinic, Guipúzcoa 20216, Spain
Immunology Unit, La Paz University Hospital, Madrid 28046, Spain
Departamento de Medicina, Universidad Autónoma de Madrid, Madrid 28029, Spain

Peer review under responsibility of Chongqing Medical University.

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References

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Pedersen DV, Lorentzen J, Andersen GR. Structural studies offer a framework for understanding the role of Properdin in the alternative pathway and beyond. Immunol Rev. 2023;313(1):46-59.

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Sjöholm AG, Braconier JH, Söderström C. Properdin deficiency in a family with fulminant meningococcal infections. Clin Exp Immunol. 1982;50(2):291-297.

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Fredrikson GN, Gullstrand B, Westberg J, Sjöholm AG, Uhlén M, Truedsson L. Expression of Properdin in complete and incomplete deficiency: normal in vitro synthesis by monocytes in two cases with Properdin deficiency type Ⅱ due to distinct mutations. J Clin Immunol. 1998;18(4):272-282.

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El Sissy C, Rosain J, Vieira-Martins P, et al. Clinical and genetic spectrum of a large cohort with total and sub-total complement deficiencies. Front Immunol. 2019;10:1936.

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Goldstein EJC, Overturf GD. Indications for the immunological evaluation of patients with meningitis. Clin Infect Dis. 2003;36(2):189-194.

Genes & Diseases
Article number: 101134
Cite this article:
González-Sánchez L, Agudo AM, Van Den Rym A, et al. Properdin deficiency associated with systemic meningococcal disease due to a novel p.Cys337Arg pathogenic variant. Genes & Diseases, 2024, 11(6): 101134. https://doi.org/10.1016/j.gendis.2023.101134

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Received: 03 July 2023
Published: 04 October 2023
© 2023 The Authors.

This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).

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