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

Yousuke Higuchi, Junya Shimizu, Michiyo Hatanaka, Etsuko Kitano, Hajime Kitamura, Hidetoshi Takada, Masataka Ishimura, Toshiro Hara, Osamu Ohara, Kenji Asagoe, Toshihide Kubo

研究成果: Contribution to journalArticle査読

13 被引用数 (Scopus)

抄録

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.

本文言語英語
論文番号41
ジャーナルPediatric Rheumatology
11
1
DOI
出版ステータス出版済み - 10 28 2013

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Rheumatology
  • Immunology and Allergy

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