Novel Missense Mutation inSP110Associated with Combined Immunodeficiency and Advanced Liver Disease Without VOD

J Clin Immunol. 2020 Jan;40(1):236-239. doi: 10.1007/s10875-019-00715-3. Epub 2019 Nov 13.
No abstract available

Publication types

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

MeSH terms

  • Child
  • Hepatic Veno-Occlusive Disease / genetics*
  • Humans
  • Liver Diseases / genetics*
  • Male
  • Minor Histocompatibility Antigens / genetics*
  • Mutation, Missense / genetics*
  • Nuclear Proteins / genetics*
  • Primary Immunodeficiency Diseases / genetics*

Substances

  • Minor Histocompatibility Antigens
  • Nuclear Proteins
  • Sp110 protein, human