A novel transmembrane CXCR4 variant that expands the WHIM genotype-phenotype paradigm

Blood Adv. 2024 Jul 23;8(14):3754-3759. doi: 10.1182/bloodadvances.2023011875.
No abstract available

Publication types

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

MeSH terms

  • Female
  • Genetic Association Studies
  • Genotype
  • Humans
  • Male
  • Phenotype
  • Primary Immunodeficiency Diseases / genetics
  • Receptors, CXCR4* / genetics
  • Receptors, CXCR4* / metabolism

Substances

  • Receptors, CXCR4
  • CXCR4 protein, human