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

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12 Citations (Scopus)

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.

Original languageEnglish
Article number41
JournalPediatric Rheumatology
Volume11
Issue number1
DOIs
Publication statusPublished - Oct 28 2013

All Science Journal Classification (ASJC) codes

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

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