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Genetic defects of complement in man

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Conclusion

Deficiencies of C1r, C4, C2, C3, C5, C6, and C8 have been discovered in man. The deficiencies are inherited as autosomal-recessive traits. In addition, C6, C7 deficiency has been encountered in a single kindred; this finding is especially interesting because the structural loci for C6 and C7 are linked. Deficiency of the C1 inhibitor is inherited as an autosomal-dominant characteristic and results in angioedema. Deficiency of the C3b inactivator (KAF) is inherited as an autosomal-recessive and results in marked in vivo C3 hypercatabolism and susceptibility to recurrent pyogenic infection.

The relationship between early complement deficiencies and immune complex disease is discussed.

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  1. Cambridge University, Cambridge, UK

    Peter J. Lachmann &  Fred S. Rosen

  2. Harvard Medical School, Boston, Massachusetts, USA

    Peter J. Lachmann &  Fred S. Rosen

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  1. Peter J. Lachmann
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Lachmann, P.J., Rosen, F.S. Genetic defects of complement in man. Springer Semin Immunopathol 1, 339–353 (1978). https://doi.org/10.1007/BF01857311

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