The Value of Chromosome Analysis to Interrogate Variants in DNMT3B Causing Immunodeficiency, Centromeric Instability, and Facial Anomaly Syndrome Type I (ICF1)

J Clin Immunol. 2019 Nov;39(8):857-859. doi: 10.1007/s10875-019-00704-6. Epub 2019 Nov 4.
No abstract available

Publication types

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

MeSH terms

  • Chromosome Aberrations*
  • DNA (Cytosine-5-)-Methyltransferases / genetics*
  • DNA Methylation
  • DNA Methyltransferase 3B
  • Face / abnormalities*
  • Female
  • Genetic Testing / methods*
  • Heterozygote
  • Humans
  • Infant
  • Karyotyping*
  • Mutation, Missense
  • Primary Immunodeficiency Diseases / diagnosis*
  • Primary Immunodeficiency Diseases / genetics
  • Primary Immunodeficiency Diseases / immunology
  • Transmembrane Activator and CAML Interactor Protein / genetics

Substances

  • TNFRSF13B protein, human
  • Transmembrane Activator and CAML Interactor Protein
  • DNA (Cytosine-5-)-Methyltransferases

Supplementary concepts

  • Immunodeficiency syndrome, variable