CXXC5 variant in an immunodeficient patient with a progressive loss of hematopoietic cells

J Allergy Clin Immunol. 2021 Apr;147(4):1504-1507.e8. doi: 10.1016/j.jaci.2020.09.036. Epub 2020 Oct 16.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Animals
  • B-Lymphocytes / immunology
  • Blood Cell Count
  • DNA-Binding Proteins / genetics*
  • Exome Sequencing
  • HEK293 Cells
  • Humans
  • Male
  • Mice
  • Mice, Inbred C57BL
  • Primary Immunodeficiency Diseases / blood
  • Primary Immunodeficiency Diseases / genetics*
  • Transcription Factors / genetics*

Substances

  • CXXC5 protein, human
  • DNA-Binding Proteins
  • Transcription Factors