Complement factor I deficiency associated with recurrent infections, vasculitis and immune complex glomerulonephritis
(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)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/229496
- author
- Genel, F ; Sjöholm, Anders LU ; Melander Skattum, Lillemor LU and Truedsson, Lennart LU
- organization
- publishing date
- 2005
- 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 (<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}}, }