ArticlePediatric rheumatology online journal2013
The identification of a novel splicing mutation in C1qB in a Japanese family with C1q deficiency: a case report.
Article in Pediatric rheumatology online journal, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
What it found
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Who cites it
6 citing papers in PubMed, 21 citations in OpenAlex.
- Homozygous C1qA Deficiency Presenting as Early-Onset Systemic Lupus Erythematosus: A Case Report With a Literature Review.Case reports in immunology · 2026Article
- The complement system and human autoimmune diseases.Journal of autoimmunity · 2023Review
- Cerebrospinal fluid cells immune landscape in multiple sclerosis.Journal of translational medicine · 2021Article
- Bone marrow transplantation from a human leukocyte antigen-mismatched unrelated donor in a case with C1q deficiency associated with refractory systemic lupus erythematosus.International journal of hematology · 2021Article
- Case Report: Early Onset Systemic Lupus Erythematosus Due to Hereditary C1q Deficiency Treated With Fresh Frozen Plasma.Frontiers in pediatrics · 2021Article
- Early Components of the Complement Classical Activation Pathway in Human Systemic Autoimmune Diseases.Frontiers in immunology · 2016Review
Corrections and comments
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Authors and funding
11 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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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Registered trials
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