A novel FAS mutation with variable expressivity in a family with unicentric and idiopathic multicentric Castleman disease

Blood Adv. 2018 Nov 13;2(21):2959-2963. doi: 10.1182/bloodadvances.2018023911.

Abstract

  1. FAS can be mutated in individuals diagnosed with unicentric and idiopathic multicentric Castleman disease.

  2. Defective lymphocyte apoptosis may be a pathological mechanism shared between Castleman disease and autoimmune lymphoproliferative syndrome.

Publication types

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

MeSH terms

  • Adult
  • Amino Acid Sequence
  • Animals
  • Castleman Disease / diagnosis*
  • Cell Line
  • Cell Membrane / metabolism
  • Fas Ligand Protein / metabolism
  • Humans
  • Male
  • Pedigree
  • Polymorphism, Single Nucleotide
  • Protein Binding
  • Sequence Alignment
  • fas Receptor / genetics
  • fas Receptor / metabolism*

Substances

  • FAS protein, human
  • Fas Ligand Protein
  • fas Receptor

Supplementary concepts

  • Multi-centric Castleman's Disease