Novel CD3Z and CD3E Deficiency in Two Unrelated Females

J Clin Immunol. 2021 Jul;41(5):1116-1118. doi: 10.1007/s10875-021-01010-w. Epub 2021 Mar 2.
No abstract available

Publication types

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

MeSH terms

  • Antibodies / immunology
  • Autoimmunity / genetics*
  • B-Lymphocytes / immunology
  • CD3 Complex / deficiency*
  • CD3 Complex / genetics
  • CD3 Complex / immunology
  • Child, Preschool
  • Fatal Outcome
  • Female
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Immunologic Deficiency Syndromes / genetics*
  • Immunologic Deficiency Syndromes / immunology
  • Infant
  • Killer Cells, Natural / immunology
  • Mutation, Missense
  • Receptors, Antigen, T-Cell / immunology
  • T-Lymphocytes / immunology

Substances

  • Antibodies
  • CD3 Complex
  • CD3 antigen, zeta chain
  • CD3E protein, human
  • Receptors, Antigen, T-Cell