Partial H (β1H) deficiency and glomerulonephritis in two families

Academic Article

Abstract

  • 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. © 1982 Plenum Publishing Corporation.
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    Digital Object Identifier (doi)

    Author List

  • Wyatt RJ; Julian BA; Weinstein A; Rothfield NF; McLean RH
  • Start Page

  • 110
  • End Page

  • 117
  • Volume

  • 2
  • Issue

  • 2