Hereditary angioedema in 2 sisters due to paternal gonadal mosaicism

J Allergy Clin Immunol Pract. 2018 Jan-Feb;6(1):277-279.e1. doi: 10.1016/j.jaip.2017.07.002. Epub 2017 Sep 6.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adolescent
  • Asymptomatic Diseases
  • Complement C1 Inhibitor Protein / genetics*
  • Complement C4 / metabolism
  • Contraceptives, Oral / adverse effects*
  • Contraceptives, Oral / therapeutic use
  • DNA Mutational Analysis
  • Ethinyl Estradiol / adverse effects*
  • Ethinyl Estradiol / therapeutic use
  • Female
  • Genetic Counseling
  • Genotype*
  • Hereditary Angioedema Types I and II / diagnosis*
  • Humans
  • Lymphocytes / physiology*
  • Male
  • Mosaicism*
  • Mutation, Missense / genetics*
  • Pedigree
  • Polymorphism, Single Nucleotide
  • Siblings
  • Spermatozoa / physiology*

Substances

  • Complement C1 Inhibitor Protein
  • Complement C4
  • Contraceptives, Oral
  • SERPING1 protein, human
  • Ethinyl Estradiol