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

作者：Higuchi Yousuke; Shimizu Junya^*; Hatanaka Michiyo; Kitano Etsuko; Kitamura Hajime; Takada Hidetoshi; Ishimura Masataka; Hara Toshiro; Ohara Osamu; Asagoe Kenji; Kubo Toshihide

来源：Pediatric Rheumatology, 2013, 11(1): 41.

DOI：10.1186/1546-0096-11-41

• C1q deficiency
• Systemic lupus erythematosus
• Hypocomplementemia
• Novel mutation
• Fresh frozen plasma

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 %26gt; 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.

• 出版日期2013-10-28