ArticleClinical and diagnostic laboratory immunology2003
Total C4B deficiency due to gene deletion and gene conversion in a patient with severe infections.
Article in Clinical and diagnostic laboratory immunology, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 14 citations in OpenAlex.
- C4B gene influences intestinal microbiota through complement activation in patients with paediatric-onset inflammatory bowel disease.Clinical and experimental immunology · 2017Trial
- Review
- Complement C4, Infections, and Autoimmune Diseases.Frontiers in immunology · 2021Review
- C4 Deficiency is a predisposing factor for Streptococcus pneumoniae-induced autoantibody production.Journal of immunology (Baltimore, Md. : 1950) · 2014Article
- Epidemiology, etiology, pathogenesis, and diagnosis of recurrent bacterial meningitis.Clinical microbiology reviews · 2008Review
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Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Deficiencies of the early components of the classical complement pathway impair the actions of innate and humoral immunity and may lead to increased susceptibility to infections. We have studied the genetic basis of total C4B deficiency in a Finnish patient with recurrent meningitis, chronic fistulas and abscesses. The maternal chromosome carried a four-gene deletion including the C4B gene, and a conversion from C4B to C4A gene was found on the paternal chromosome resulting in complete deficiency of C4B. In the converted C4A gene, mutation screening did not reveal any amino acid changes or prominent mutations, yet a large number of nucleotide variations were found. Further, the patient was heterozygous for structural deficiency of mannan binding lectin (MBL) associating with medium levels of serum MBL. Our data provides new information on the genetic instability of the C4 gene region, and on the association of homozygous C4B deficiency and variant MBL genotype with increased susceptibility to recurrent and chronic infections. Importantly, plasma therapy induced a prompt clinical cure with long-term effects.
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Registered trials
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