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Article

The identification of a novel splicing mutation in C1qB in a Japanese family with C1q deficiency: a case report

28 Oct 2013

Abstract excerpt

C1q deficiency is a rare disease that is associated with a high probability of developing systemic lupus erythematosus. We report a 4-year-old Japanese girl who presented with fever, facial erythema, joint pain, and oral ulceration. Complement deficiencies were suspected because of her persistent hypocomplementemia and normal levels of the complement proteins C3 and C4. We identified a novel homozygous splicing...

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PMID: 24160257
DOI: 10.1186/1546-0096-11-41

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