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Open Access 01-12-2012 | Research

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

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

Published in: Orphanet Journal of Rare Diseases | Issue 1/2012

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.

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Title: Complement factor I deficiency: a not so rare immune defect. Characterization of new mutations and the first large gene deletion
Authors: María Alba-Domínguez
Alberto López-Lera
Sofía Garrido
Pilar Nozal
Ignacio González-Granado
Josefa Melero
Pere Soler-Palacín
Carmen Cámara
Margarita López-Trascasa
Publication date: 01-12-2012
Publisher: BioMed Central
Published in: Orphanet Journal of Rare Diseases / Issue 1/2012
Electronic ISSN: 1750-1172
DOI: https://doi.org/10.1186/1750-1172-7-42

Keynote webinar | Spotlight on medication adherence

Springer Medicine

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

Abstract

Background

Patients and methods

Results

Conclusion

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Patients and methods

Results

Conclusion

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