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Genetic, molecular and functional analyses of complement factor I deficiency

9 Dec 2008

Abstract excerpt

Complete deficiency of complement inhibitor factor I (FI) results in secondary complement deficiency due to uncontrolled spontaneous alternative pathway activation leading to susceptibility to infections. Current genetic examination of two patients with near complete FI deficiency and three patients with no detectable serum FI and also close family members revealed homozygous or compound heterozygous mutations in...

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Identifiers

PMID: 19065647
DOI: 10.1002/eji.200838702

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