Article
Primary complement C5 deficiencies - molecular characterization and clinical review of two families.
Immunobiology - 1 Oct 2013
Schejbel Lone, Fadnes Dag, Permin Henrik, Lappegård Knut Tore, Garred Peter, Mollnes Tom Eirik
Abstract excerpt
Inherited deficiency states of the terminal complement component C5 are rare and often associated with increased risk of recurrent Neisseria infections. More than 50 cases with primary C5 deficiency have been reported. In spite of this, the molecular basis has only been documented in a few cases. In the present study we investigated two unrelated Caucasian probands with C5 deficiency originating from Norway and...
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