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

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 af...

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Veröffentlicht in:	Scandinavian journal of infectious diseases 2005, Vol.37 (8), p.615-618
Hauptverfasser:	Genel, Ferah, Sjöholm, Anders G., Skattum, Lillemor, Truedsson, Lennart
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Biological and medical sciences Child Clinical Medicine Complement Factor I - deficiency Consanguinity Female Glomerulonephritis Glomerulonephritis - complications Glomerulonephritis - immunology Humans Immunodeficiencies Immunodeficiencies. Immunoglobulinopathies Immunopathology Infection - complications Infectious Medicine Infektionsmedicin Klinisk medicin Medical and Health Sciences Medical sciences Medicin och hälsovetenskap Nephrology. Urinary tract diseases Nephropathies. Renovascular diseases. Renal failure Recurrence Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis Turkey Vasculitis - complications
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Zusammenfassung:	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 (
ISSN:	0036-5548 1651-1980 1651-1980
DOI:	10.1080/00365540510034536