Recurrent inflammatory disease caused by a heterozygous mutation in CD48

J Allergy Clin Immunol. 2019 Nov;144(5):1441-1445.e17. doi: 10.1016/j.jaci.2019.07.038. Epub 2019 Aug 13.
No abstract available

Publication types

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

MeSH terms

  • CD48 Antigen / genetics*
  • CD8-Positive T-Lymphocytes / immunology*
  • Computational Biology
  • Cytotoxicity, Immunologic / genetics*
  • Exome Sequencing
  • HEK293 Cells
  • Heterozygote
  • Humans
  • Inflammation
  • Interleukin-6 / genetics
  • Interleukin-6 / metabolism*
  • Killer Cells, Natural / immunology*
  • Lymphohistiocytosis, Hemophagocytic / genetics*
  • Mutation / genetics*
  • Pedigree
  • Qa-SNARE Proteins / genetics
  • Recurrence
  • Up-Regulation
  • Young Adult

Substances

  • CD48 Antigen
  • Interleukin-6
  • Qa-SNARE Proteins
  • STX11 protein, human