Severe combined immunodeficiency caused by inositol-trisphosphate 3-kinase B (ITPKB) deficiency

J Allergy Clin Immunol. 2020 Jun;145(6):1696-1699.e6. doi: 10.1016/j.jaci.2020.01.014. Epub 2020 Jan 25.
No abstract available

Publication types

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

MeSH terms

  • Animals
  • B-Lymphocytes / immunology
  • CD4-Positive T-Lymphocytes / immunology
  • CD8-Positive T-Lymphocytes / immunology
  • Cell Line
  • Child
  • Female
  • HEK293 Cells
  • Humans
  • Immunoglobulin G / immunology
  • Lymphopenia / genetics
  • Lymphopenia / immunology
  • Mice
  • Phosphotransferases (Alcohol Group Acceptor) / deficiency*
  • Phosphotransferases (Alcohol Group Acceptor) / immunology
  • Severe Combined Immunodeficiency / genetics*
  • Severe Combined Immunodeficiency / immunology*

Substances

  • Immunoglobulin G
  • Phosphotransferases (Alcohol Group Acceptor)
  • Inositol 1,4,5-trisphosphate 3-kinase