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Clinical and Diagnostic Laboratory Immunology, March 2003, p. 195-201, Vol. 10, No. 2
1071-412X/03/$08.00+0     DOI: 10.1128/CDLI.10.2.195-201.2003
Copyright © 2003, American Society for Microbiology. All Rights Reserved.

Total C4B Deficiency Due to Gene Deletion and Gene Conversion in a Patient with Severe Infections

Taina Jaatinen,1 Meri Lahti,1 Olli Ruuskanen,2 Riikka Kinos,3 Lennart Truedsson,4 Riitta Lahesmaa,3 and Marja-Liisa Lokki1*

Department of Tissue Typing, Finnish Red Cross Blood Transfusion ServiceHelsinki,1 Department of Pediatrics, Turku University Central Hospital,2 Turku Center for Biotechnology, University of Turku and Åbo Akademi University, Turku, Finland,3 Department of Laboratory Medicine, Section of M.I.G., Lund University, Lund, Sweden4

Received 17 June 2002/ Returned for modification 6 September 2002/ Accepted 11 November 2002

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.

* Corresponding author. Present address: Biomedicum, P.O. Box 63, 00014 University of Helsinki, Finland. Phone: 358-9-19125157. Fax: 358-9-19125155. E-mail: maisa.lokki{at}helsinki.fi.

Clinical and Diagnostic Laboratory Immunology, March 2003, p. 195-201, Vol. 10, No. 2
1071-412X/03/$08.00+0     DOI: 10.1128/CDLI.10.2.195-201.2003
Copyright © 2003, American Society for Microbiology. All Rights Reserved.





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