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Partial H (β1H) deficiency and glomerulonephritis in two families

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H (β1H) controls the C3b amplification loop by its ability to displace Bb from the alternative pathway convertase, C3b,Bb, and acts as a cofactor with I (C3b inactivator) to produce inactive C3b. Serum C3 levels are dependent to a large extent on the levels of H and I. Partial H deficiency was found in two families. The index case in Family 1 had vasculitis, thrombocytopenia, proteinuria, and depressed serum H and C3 levels. The index case in Family 2 had depressed serum H and B (Factor B) levels and IgA nephropathy which progressed to renal failure. His sister also had IgA nephropathy and depressed serum H and C3 levels. The depressed serum C3 level, B level, and H level could be responsible for the development of the immune diseases found in some members of these families.

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Correspondence to Robert J. Wyatt.

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Wyatt, R.J., Julian, B.A., Weinstein, A. et al. Partial H (β1H) deficiency and glomerulonephritis in two families. J Clin Immunol 2, 110–117 (1982). https://doi.org/10.1007/BF00916894

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Key words

  • Complement
  • H
  • C3
  • IgA nephropathy