Total C4B deficiency due to gene deletion and gene conversion in a patient with severe infections
(2003) In Clinical and Diagnostic Laboratory Immunology 10(2). p.195-201- 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... (More)
- 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. (Less)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/141815
- author
- Jaatinen, Taina ; Lahti, Meri ; Ruuskanen, Olli ; Kinos, Riikka ; Truedsson, Lennart LU ; Lahesmaa, Riitta and Lokki, Marja-Liisa
- organization
- publishing date
- 2003
- type
- Contribution to journal
- publication status
- published
- subject
- in
- Clinical and Diagnostic Laboratory Immunology
- volume
- 10
- issue
- 2
- pages
- 195 - 201
- publisher
- American Society for Microbiology
- external identifiers
-
- wos:000181566700001
- pmid:12626442
- scopus:0037338611
- ISSN
- 1071-412X
- DOI
- 10.1128/CDLI.10.2.195-201.2003
- language
- English
- LU publication?
- yes
- id
- eefc5c2e-85b1-44c1-b6db-a7fb1b4b6ee4 (old id 141815)
- alternative location
- http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=12626442&query_hl=33
- date added to LUP
- 2016-04-01 16:05:49
- date last changed
- 2022-01-28 17:17:15
@article{eefc5c2e-85b1-44c1-b6db-a7fb1b4b6ee4, 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.}}, author = {{Jaatinen, Taina and Lahti, Meri and Ruuskanen, Olli and Kinos, Riikka and Truedsson, Lennart and Lahesmaa, Riitta and Lokki, Marja-Liisa}}, issn = {{1071-412X}}, language = {{eng}}, number = {{2}}, pages = {{195--201}}, publisher = {{American Society for Microbiology}}, series = {{Clinical and Diagnostic Laboratory Immunology}}, title = {{Total C4B deficiency due to gene deletion and gene conversion in a patient with severe infections}}, url = {{https://lup.lub.lu.se/search/files/4566685/624784.pdf}}, doi = {{10.1128/CDLI.10.2.195-201.2003}}, volume = {{10}}, year = {{2003}}, }