[HTML][HTML] Complement factor I deficiency: a not so rare immune defect. Characterization of new mutations and the first large gene deletion
M Alba-Domínguez, A López-Lera, S Garrido… - Orphanet journal of rare …, 2012 - Springer
M Alba-Domínguez, A López-Lera, S Garrido, P Nozal, I González-Granado, J Melero…
Orphanet journal of rare diseases, 2012•SpringerAbstract 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 …
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 …
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.
Springer
