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Complement factor I deficiency associated with recurrent infections, vasculitis and immune complex glomerulonephritis

Genel, F ; Sjöholm, Anders LU ; Melander Skattum, Lillemor LU and Truedsson, Lennart LU (2005) In Scandinavian Journal of Infectious Diseases 37(8). p.615-618
Abstract
Here we report complement factor I deficiency in an 11-y-old girl from a consanguineous Turkish family, who presented with recurrent pyogenic infections, vasculitic eruptions and immune complex glomerulonephritis. A moderately low C3 level together with the clinical picture suggested a deficiency affecting regulation of complement activation. Analysis of haemolytic activity revealed absence of alternative pathway activity and subsequent analysis showed no detectable factor I (<2%) together with a low level of factor B and a moderately low level of factor H, indicating consumption secondary to the factor I deficiency. Factor I inhibits complement activation beyond C3 by cleavage of C3b in the presence of cofactors. Complement factor I... (More)
Here we report complement factor I deficiency in an 11-y-old girl from a consanguineous Turkish family, who presented with recurrent pyogenic infections, vasculitic eruptions and immune complex glomerulonephritis. A moderately low C3 level together with the clinical picture suggested a deficiency affecting regulation of complement activation. Analysis of haemolytic activity revealed absence of alternative pathway activity and subsequent analysis showed no detectable factor I (<2%) together with a low level of factor B and a moderately low level of factor H, indicating consumption secondary to the factor I deficiency. Factor I inhibits complement activation beyond C3 by cleavage of C3b in the presence of cofactors. Complement factor I deficiency is frequently associated with recurrent pyogenic infections mainly affecting the upper and lower respiratory tract, or presenting as meningitis or septicaemia, while rheumatic disorders have not been a prominent feature. The patient's sister also suffered from recurrent pyogenic infections and had a low C3 level clearly suggesting the same deficiency. (Less)
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publishing date
type
Contribution to journal
publication status
published
subject
in
Scandinavian Journal of Infectious Diseases
volume
37
issue
8
pages
615 - 618
publisher
Informa Healthcare
external identifiers
  • wos:000231163100013
  • pmid:16138437
  • scopus:24644456929
ISSN
1651-1980
DOI
10.1080/00365540510034536
language
English
LU publication?
yes
id
b37ff76d-4a94-4221-990b-ba2c884479a8 (old id 229496)
date added to LUP
2016-04-01 15:57:27
date last changed
2022-01-28 08:17:02
@article{b37ff76d-4a94-4221-990b-ba2c884479a8,
  abstract     = {{Here we report complement factor I deficiency in an 11-y-old girl from a consanguineous Turkish family, who presented with recurrent pyogenic infections, vasculitic eruptions and immune complex glomerulonephritis. A moderately low C3 level together with the clinical picture suggested a deficiency affecting regulation of complement activation. Analysis of haemolytic activity revealed absence of alternative pathway activity and subsequent analysis showed no detectable factor I (&lt;2%) together with a low level of factor B and a moderately low level of factor H, indicating consumption secondary to the factor I deficiency. Factor I inhibits complement activation beyond C3 by cleavage of C3b in the presence of cofactors. Complement factor I deficiency is frequently associated with recurrent pyogenic infections mainly affecting the upper and lower respiratory tract, or presenting as meningitis or septicaemia, while rheumatic disorders have not been a prominent feature. The patient's sister also suffered from recurrent pyogenic infections and had a low C3 level clearly suggesting the same deficiency.}},
  author       = {{Genel, F and Sjöholm, Anders and Melander Skattum, Lillemor and Truedsson, Lennart}},
  issn         = {{1651-1980}},
  language     = {{eng}},
  number       = {{8}},
  pages        = {{615--618}},
  publisher    = {{Informa Healthcare}},
  series       = {{Scandinavian Journal of Infectious Diseases}},
  title        = {{Complement factor I deficiency associated with recurrent infections, vasculitis and immune complex glomerulonephritis}},
  url          = {{http://dx.doi.org/10.1080/00365540510034536}},
  doi          = {{10.1080/00365540510034536}},
  volume       = {{37}},
  year         = {{2005}},
}