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

10Citations
Citations of this article
17Readers
Mendeley users who have this article in their library.

Abstract

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 mutation in the C1qB gene, c.187 + 1G > T, which is the first mutation to be confirmed in a Japanese individual. Because treatment with steroids and immunosuppressive drugs was not effective, we commenced use of fresh frozen plasma to provide C1q supplements. Currently, the patient remains almost asymptomatic, and we are attempting to control the drug dosage and administration intervals of fresh frozen plasma. © 2013 Higuchi et al.; licensee BioMed Central Ltd.

Cite

CITATION STYLE

APA

Higuchi, Y., Shimizu, J., Hatanaka, M., Kitano, E., Kitamura, H., Takada, H., … Kubo, T. (2013). The identification of a novel splicing mutation in C1qB in a Japanese family with C1q deficiency: A case report. Pediatric Rheumatology, 11(1). https://doi.org/10.1186/1546-0096-11-41

Register to see more suggestions

Mendeley helps you to discover research relevant for your work.

Already have an account?

Save time finding and organizing research with Mendeley

Sign up for free