Complement factor i deficiency: A not so rare immune defect. Characterization of new mutations and the first large gene deletion

María Alba-Domínguez, Alberto Lápez-Lera, Sofía Garrido, Pilar Nozal, Ignacio González-Granado, Josefa Melero, Pere Soler-Palacín, Carmen Cámara, Margarita Lápez-Trascasa

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27 Citations (Scopus)

Abstract

Background: Complement Factor I (CFI) is a serine protease with an important role in complement alternative pathway regulation. Complete factor I deficiency is strongly associated with severe infections. Approximately 30 families with this deficiency have been described worldwide. Patients and methods: We have studied five new Spanish families suffering from CFI deficiency. From 19 screened people, 7 homozygous, 10 heterozygous and 2 healthy subjects were identified. Clinical, biochemical and genetic descriptions are included. Results: Molecular studies demonstrated 4 novel mutations in the screened individuals; amongst them, we describe here the first great gene deletion reported in the CFI locus, which includes full exon 2 and part of the large intron 1. Conclusion: CFI deficiency is possibly an underestimated defect and the eventual existence of this deficiency should be tested in those patients exhibiting low C3 and recurrent bacterial infections. We propose a simple diagnostic flowchart to help clinicians in the identification and correct diagnosis of such patients. © 2012 Alba-Domnguez et al.; licensee BioMed Central Ltd.
Original languageEnglish
Article number42
JournalOrphanet Journal of Rare Diseases
Volume7
Issue number1
DOIs
Publication statusPublished - 20 Jun 2012

Keywords

  • C3 consumption
  • Complement deficiency
  • Complement factor I
  • Diagnostic flowchart
  • Large deletions
  • Recurrent infections

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