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Total C4B deficiency due to gene deletion and gene conversion in a patient with severe infections

På svenska

Author

  • Taina Jaatinen
  • Meri Lahti
  • Olli Ruuskanen
  • Riikka Kinos
  • Lennart Truedsson
  • Riitta Lahesmaa
  • Marja-Liisa Lokki

Summary, in English

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.

Publishing year

2003

Language

English

Pages

195-201

Publication/Series

Clinical and Diagnostic Laboratory Immunology

Volume

10

Issue

2

Document type

Journal article

Publisher

American Society for Microbiology

Topic

  • Microbiology in the medical area
  • Immunology in the medical area

Status

Published

ISBN/ISSN/Other

  • ISSN: 1071-412X