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

Orphanet Journal of Rare Diseases

Margarita López-Trascasa³  Carmen Cámara⁶  Pere Soler-Palacín⁴  Josefa Melero¹  Ignacio González-Granado²  Pilar Nozal⁵  Sofía Garrido³  Alberto López-Lera³  María Alba-Domínguez³ 

[1] Servicio Inmunología Hospital Infanta Cristina, Badajoz, Spain;Departamento de Pediatría Hospital Universitario 12 de Octubre, Madrid, Spain;Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain;Unidad de Patología Infecciosa e Inmunodeficiencias de Pediatría. Hospital Universitari Vall d’Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain;Unidad de Inmunología Hospital Universitario La Paz and Hospital La Paz Health Research Institute (IdiPAZ), Madrid, Spain;Servicio Inmunología Hospital San Pedro de Alcántara, Cáceres, Spain

关键词: Diagnostic flowchart;    Large deletions;    Complement factor I;    C3 consumption;    Recurrent infections;    Complement deficiency;   

Others  :  864330
DOI  :  10.1186/1750-1172-7-42

 received in 2012-03-28, accepted in 2012-06-11,  发布年份 2012

【 摘 要 】

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.

【 授权许可】

   
2012 Alba-Domínguez et al.; licensee BioMed Central Ltd.

【 图 表 】

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