Successful hematopoietic stem cell transplantation for complete CTLA-4 haploinsufficiency due to a de novo monoallelic 2q33.2-2q33.3 deletion

Clin Immunol. 2020 Nov:220:108589. doi: 10.1016/j.clim.2020.108589. Epub 2020 Sep 12.
No abstract available

Keywords: CTLA-4; HSCT.

Publication types

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

MeSH terms

  • Adult
  • Alleles
  • CTLA-4 Antigen / genetics*
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 2*
  • Common Variable Immunodeficiency / genetics
  • Common Variable Immunodeficiency / immunology
  • Common Variable Immunodeficiency / therapy*
  • Female
  • Haploinsufficiency*
  • Hematopoietic Stem Cell Transplantation*
  • Humans
  • Young Adult

Substances

  • CTLA-4 Antigen
  • CTLA4 protein, human