Recurrent infections in partial complement factor I deficiency

• Verfasst von: Grumach, Anete [VerfasserIn]
• Verfasst von: Leitão, M F [VerfasserIn]
• Verfasst von: Arruk, V G [VerfasserIn]
• Verfasst von: Kirschfink, Michael [VerfasserIn]
• Verfasst von: Condino-Neto, A [VerfasserIn]
• Titel: Recurrent infections in partial complement factor I deficiency
• Titelzusatz: evaluation of three generations of a Brazilian family
• Verf.angabe: A.S. Grumach, M.F. Leitão, V.G. Arruk, M. Kirschfink and A. Condino-Neto
• Jahr: 2006
• Umfang: 8 S.
• Fussnoten: Gesehen am 15.02.2021
• Titel Quelle: Enthalten in: Clinical & experimental immunology
• Ort Quelle: Oxford : Wiley-Blackwell, 1966
• Jahr Quelle: 2006
• Band/Heft Quelle: 143(2006), 2, Seite 297-304
• ISSN Quelle: 1365-2249
• DOI: doi:10.1111/j.1365-2249.2005.02988.x
• Datenträger: Online-Ressource
• Sprache: eng
• K10plus-PPN: 174829444X

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 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.