Yousuke Higuchi, Junya Shimizu, Michiyo Hatanaka, Etsuko Kitano, Hajime Kitamura, Hidetoshi Takada, Masataka Ishimura, Toshiro Hara, Osamu Ohara, Kenji Asagoe, Toshihide Kubo
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...
October 28, 2013: Pediatric Rheumatology Online Journal