Increased frequency of homozygosity of abnormal mannan-binding-protein alleles in patients with suspected immunodeficiency.

@article{Garred1995IncreasedFO,
  title={Increased frequency of homozygosity of abnormal mannan-binding-protein alleles in patients with suspected immunodeficiency.},
  author={Peter Garred and Hans Ole Madsen and Beda Hofmann and Arne Svejgaard},
  journal={Lancet},
  year={1995},
  volume={346 8980},
  pages={941-3}
}
A low plasma concentration of mannan-binding protein (MBP) impairs opsonisation and phagocytosis. Three different mutations in the MBP gene have a dominant effect on MBP concentration. We investigated the frequency of the abnormal MBP alleles in 228 unrelated patients suspected of various non-HIV-related immunodeficiencies. The frequency of heterozygotes for the abnormal alleles was not different from that in the background population (36.0% and 37.4%, respectively). By contrast, the frequency… CONTINUE READING

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