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Clinical variability and characteristic autoantibody profile in primary C1q complement deficiency

27 Aug 2007

Abstract excerpt

OBJECTIVES: C1q deficiency is a rare inherited defect in the early part of the complement cascade. In this report, we describe the varied clinical features of patients with this condition as well as the characteristic autoantibody profile. METHODS: A large Pakistani family with a high degree of consanguinity is described in which the father and five sons have C1q deficiency, all with different clinical...

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PMID: 17890276
DOI: 10.1093/rheumatology/kem207

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