ArticleScandinavian journal of immunology2012
A novel mutation W388X underlying properdin deficiency in a Finnish family.
Article in Scandinavian journal of immunology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 11 citations in OpenAlex.
- Structural studies offer a framework for understanding the role of properdin in the alternative pathway and beyond.Immunological reviews · 2023Review
- Human genetics of meningococcal infections.Human genetics · 2020Review
- European Society for Immunodeficiencies (ESID) and European Reference Network on Rare Primary Immunodeficiency, Autoinflammatory and Autoimmune Diseases (ERN RITA) Complement Guideline: Deficiencies, Diagnosis, and Management.Journal of clinical immunology · 2020Article
- The role of properdin in complement-mediated renal diseases: a new player in complement-inhibiting therapy?Pediatric nephrology (Berlin, Germany) · 2019Article
- Clinical and Genetic Spectrum of a Large Cohort With Total and Sub-total Complement Deficiencies.Frontiers in immunology · 2019Article
- Properdin: A multifaceted molecule involved in inflammation and diseases.Molecular immunology · 2018Review
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
Properdin deficiency is a rare immunological disorder inherited as an X-chromosomal recessive trait. Properdin deficiency poses a significant risk for severe meningococcal infections. About 20 mutations have been reported to underlie properdin deficiency. Here we report a large Finnish family with a novel mutation in the properdin gene (CFP). Based on the total absence of properdin activity in a 14-year-old male patient with an infection resembling meningococcal bacteraemia, the coding region and splice sites of the gene were sequenced. The mutation is located in exon 9 and changes guanine to adenine at nucleotide 1164 (c.1164G>A) that causes tryptophan to change to a premature stop codon (W388X). The mother of the patient was shown to be a carrier of the mutation. In total, the mutation was identified in six females and three young males in the family. The mutation must be inherited from the grandfather who had died of an unknown infectious disease. This is the first mutation of the properdin gene identified in Finland.
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