A Family with a Novel CTLA4 Haploinsufficiency Mutation and Neurological Symptoms

J Clin Immunol. 2021 Aug;41(6):1411-1416. doi: 10.1007/s10875-021-01027-1. Epub 2021 May 6.
No abstract available

Keywords: CTLA4 haploinsufficiency; autoimmunity; demyelination; immune tolerance; lymphoproliferation; neurological symptoms.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • CTLA-4 Antigen / genetics*
  • Child
  • Female
  • Humans
  • Male
  • Middle Aged
  • Mutation / genetics*
  • Nervous System Diseases / genetics*

Substances

  • CTLA-4 Antigen
  • CTLA4 protein, human