Expanding the clinical phenotype of FADD deficiency with a novel mutation and its role in Fas-mediated apoptotic pathway

Br J Haematol. 2023 Jul;202(2):e11-e15. doi: 10.1111/bjh.18871. Epub 2023 May 18.
No abstract available

Keywords: FC-DNTs; Fas-associated death domain (FADD); autoimmune lymphoproliferative syndrome (ALPS); autoimmunity; lymphoproliferation.

Publication types

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

MeSH terms

  • Apoptosis / genetics
  • Autoimmune Diseases* / genetics
  • Autoimmune Lymphoproliferative Syndrome* / genetics
  • Fas-Associated Death Domain Protein / genetics
  • Fas-Associated Death Domain Protein / metabolism
  • Humans
  • Mutation
  • Phenotype
  • fas Receptor / genetics

Substances

  • fas Receptor
  • FADD protein, human
  • Fas-Associated Death Domain Protein