Novel LRBA Mutation and Possible Germinal Mosaicism in a Slavic Family

J Clin Immunol. 2018 May;38(4):471-474. doi: 10.1007/s10875-018-0515-x. Epub 2018 May 26.
No abstract available

Keywords: LRBA homozygous mutation; Slavic family; germline mosaicism; multiple autoimmunity.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics*
  • Biopsy
  • Child, Preschool
  • DNA Mutational Analysis
  • Exome Sequencing
  • Female
  • Genetic Association Studies*
  • Genetic Predisposition to Disease*
  • Germ-Line Mutation
  • Homozygote
  • Humans
  • Infant
  • Male
  • Mosaicism*
  • Mutation*
  • Pedigree
  • Republic of Belarus
  • Siblings
  • Tomography, X-Ray Computed

Substances

  • Adaptor Proteins, Signal Transducing
  • LRBA protein, human