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Immunoglobulin deficiencies and susceptibility to infection among homozygotes and heterozygotes for C2 deficiency

På svenska

Author

  • CA Alper
  • JH Xu
  • K Cosmopoulos
  • B Dolinski
  • R Stein
  • G Uko
  • CE Larsen
  • DP Dubey
  • P Densen
  • Lennart Truedsson
  • Gunnar Sturfelt
  • Anders Sjöholm
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Summary, in English

About 25% of C2-deficient homozygotes have increased susceptibility to severe bacterial infections. C2-deficient homozygotes had significantly lower serum levels of IgG2, IgG4, IgD, and Factor B, significantly higher levels of IgA and IgG3 and levels of IgG1 and IgM similar to controls. Type I ( 28 bp deletion in C2 exon 6 on the [HLA-B18, S042, DR2] haplotype or its fragments) and type II ( non-type I) C2-deficient patients with increased susceptibility to bacterial infection had significantly lower mean levels of IgG4 ( p < 0.04) and IgA ( p < 0.01) than those without infections ( who had a higher than normal mean IgA level) but similar mean levels of other immunoglobulins and Factor B. Of 13 C2-deficient homozygotes with infections, 85% had IgG4 deficiency, compared with 64% of 25 without infections. IgD deficiency was equally extraordinarily common among infection-prone (50%) and noninfection-prone (70%) homozygous type I C2-deficient patients. IgD deficiency was also common (35%) among 31 type I C2-deficient heterozygotes ( with normal or type II haplotypes), but was not found in 5 type II C2-deficient heterozygotes or 1 homozygote. Thus, C2 deficiency itself is associated with many abnormalities in serum immunoglobulin levels, some of which, such as in IgG4 and IgA, may contribute to increased susceptibility to infection. In contrast, IgD deficiency appears not to contribute to increased infections and appears to be a dominant trait determined by a gene or genes on the extended major histocompatibility complex (MHC) haplotype [HLA-B18, S042, DR2] ( but probably not on type II C2-deficient haplotypes) similar to those previously identified on [HLA-B8, SC01, DR3] and [HLA-B18, F1C30, DR3].

Publishing year

2003

Language

English

Pages

297-305

Publication/Series

Journal of Clinical Immunology

Volume

23

Issue

4

Document type

Journal article

Publisher

Springer

Topic

  • Immunology in the medical area

Keywords

  • MHC
  • C2 deficiency
  • immunodeficiency diseases
  • infection

Status

Published

ISBN/ISSN/Other

  • ISSN: 0271-9142