AI Article Synopsis
- C1q deficiency is a rare condition linked to a high risk of systemic lupus erythematosus, showcased in a case of a 4-year-old Japanese girl with symptoms like fever and joint pain.
- A novel homozygous mutation in the C1qB gene was identified, marking the first documented occurrence in a Japanese patient.
- After ineffective treatment with steroids and immunosuppressants, fresh frozen plasma was used successfully, and the patient is now nearly symptom-free while adjusting treatment protocols.
Article 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.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3874733 | PMC |
| http://dx.doi.org/10.1186/1546-0096-11-41 | DOI Listing |
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