Recurrent infections in partial complement factor I deficiency: evaluation of three generations of a Brazilian family
We report here on the evaluation of a factor I-deficient Brazilian family (three generations, 39 members) with strong consanguinity. The complete factor I-deficient patients (n = 3) presented recurrent respiratory infections, skin infections and meningitis; one of them died after sepsis. They presen...
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| Hauptverfasser: | , , , , |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
2006
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| In: |
Clinical & experimental immunology
Year: 2006, Jahrgang: 143, Heft: 2, Pages: 297-304 |
| ISSN: | 1365-2249 |
| DOI: | 10.1111/j.1365-2249.2005.02988.x |
| Online-Zugang: | Verlag, lizenzpflichtig, Volltext: https://dx.doi.org/10.1111/j.1365-2249.2005.02988.x Verlag, lizenzpflichtig, Volltext: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1809586/ 
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| Verfasserangaben: | A.S. Grumach, M.F. Leitão, V.G. Arruk, M. Kirschfink and A. Condino-Neto |
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| 520 | |a We report here on the evaluation of a factor I-deficient Brazilian family (three generations, 39 members) with strong consanguinity. The complete factor I-deficient patients (n = 3) presented recurrent respiratory infections, skin infections and meningitis; one of them died after sepsis. They presented an impaired total haemolytic activity (CH50), low C3, low factor H and undetectable C3dg/C3d. Partial factor I deficiency was detected in 16 family members (normal low cut-off value was 25 µg/ml). Respiratory infections were the most common clinical occurrence among partial factor I-deficient relatives. Two of them were submitted to nephrectomy following recurrent urinary tract infections. An additional two heterozygous relatives presented with arthritis and rheumatic fever. Apparently, patients with partial factor I deficiency are also at higher risk for recurrent infections. Vaccination against capsulated bacteria and the eventual use of prophylactic antibiotics should be considered individually in this patient group. | ||
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