Partial H (beta 1H) deficiency and glomerulonephritis in two families

J Clin Immunol. 1982 Apr;2(2):110-7. doi: 10.1007/BF00916894.

Abstract

H (beta 1H) 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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • Animals
  • Child
  • Complement C3 / biosynthesis
  • Complement C3 / genetics
  • Complement C3b Inactivator Proteins / biosynthesis*
  • Complement Factor H
  • Female
  • Glomerulonephritis / genetics
  • Glomerulonephritis / immunology*
  • Histocompatibility Testing
  • Humans
  • Immunoglobulin A / metabolism
  • Male
  • Middle Aged
  • Pedigree
  • Phenotype
  • Rabbits

Substances

  • Complement C3
  • Complement C3b Inactivator Proteins
  • Immunoglobulin A
  • complement factor H, human
  • Complement Factor H