Recurrent infections in partial complement factor I deficiency: evaluation of three generations of a Brazilian family

Clin Exp Immunol. 2006 Feb;143(2):297-304. doi: 10.1111/j.1365-2249.2005.02988.x.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Bacterial Infections / genetics
  • Bacterial Infections / immunology*
  • Brazil
  • Child
  • Child, Preschool
  • Complement Factor I / analysis
  • Complement Factor I / deficiency*
  • 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

Substances

  • Complement Factor I