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Article

Clinical presentations and molecular basis of complement C1r deficiency in a male African–American patient with systemic lupus erythematosus

22 Jul 2011

Abstract excerpt

Homozygous deficiencies of early components for complement activation are among the strongest genetic risk factors for human systemic lupus erythematosus (SLE). Eleven cases of C1r deficiency are documented but this is the first report on the molecular basis of C1r deficiency. The proband is an African-American male who developed SLE at 3 months of age. He had a discoid lupus rash and diffuse proliferative...

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PMID: 21784777
DOI: 10.1177/0961203311404914

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