1. Recurrent infections in partial complement factor I deficiency: evaluation of three generations of a Brazilian family.
- Author
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Grumach AS, Leitão MF, Arruk VG, Kirschfink M, and Condino-Neto A
- Subjects
- Adolescent, Adult, Aged, Bacterial Infections genetics, Brazil, Child, Child, Preschool, Complement Factor I analysis, Complement Factor I immunology, Family Health, Female, Humans, Immunity, Innate genetics, Immunity, Innate immunology, Male, Meningitis immunology, Pedigree, Recurrence, Respiratory Tract Infections genetics, Respiratory Tract Infections immunology, Skin Diseases, Infectious genetics, Skin Diseases, Infectious immunology, Bacterial Infections immunology, Complement Factor I deficiency
- Abstract
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 microg/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.
- Published
- 2006
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