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

F Genel, AG Sjöholm, L Skattum… - Scandinavian journal of …, 2005 - Taylor & Francis
F Genel, AG Sjöholm, L Skattum, L Truedsson
Scandinavian journal of infectious diseases, 2005Taylor & Francis
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 …
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.
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