A new case of homozygous C1-inhibitor deficiency suggests a role for Arg378 in the control of kinin pathway activation

J Allergy Clin Immunol. 2010 Dec;126(6):1307-10.e3. doi: 10.1016/j.jaci.2010.07.037.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Angioedemas, Hereditary / diagnosis
  • Angioedemas, Hereditary / genetics*
  • Angioedemas, Hereditary / metabolism
  • Angioedemas, Hereditary / physiopathology*
  • Cell Line, Transformed
  • Child, Preschool
  • Complement C1 Inhibitor Protein / genetics
  • Complement C1 Inhibitor Protein / metabolism*
  • Complement C1q / deficiency*
  • DNA Mutational Analysis
  • Disease Progression
  • Family
  • Female
  • Homozygote
  • Humans
  • Male
  • Mutant Proteins / genetics
  • Mutant Proteins / metabolism*
  • Mutation / genetics
  • Nephelometry and Turbidimetry
  • Plasma Kallikrein / metabolism
  • Protein Binding / genetics
  • Protein Binding / immunology
  • Protein Conformation
  • Transgenes / genetics

Substances

  • Complement C1 Inhibitor Protein
  • Mutant Proteins
  • Complement C1q
  • Plasma Kallikrein