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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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organization
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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
2007-08-07 13:12:06
date last changed
2017-01-01 06:51:36
@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},
  volume       = {37},
  year         = {2005},
}