Complete CD95/FAS deficiency due to complex homozygous germline TNFRSF6 mutations in an adult patient with mild autoimmune lymphoproliferative syndrome (ALPS)

Clin Immunol. 2021 Jul:228:108757. doi: 10.1016/j.clim.2021.108757. Epub 2021 May 13.
No abstract available

Keywords: ALPS; Autoimmunity; FAS; FAS/CD95 expression; Inborn errors of immunity; Lymphocyte.

Publication types

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

MeSH terms

  • Autoimmune Lymphoproliferative Syndrome / diagnosis
  • Autoimmune Lymphoproliferative Syndrome / etiology*
  • Autoimmune Lymphoproliferative Syndrome / metabolism
  • Autoimmune Lymphoproliferative Syndrome / therapy
  • Biomarkers
  • Disease Susceptibility
  • Genetic Predisposition to Disease
  • Germ-Line Mutation*
  • Hematopoietic Stem Cell Transplantation
  • High-Throughput Nucleotide Sequencing
  • Homozygote*
  • Humans
  • T-Lymphocytes / immunology
  • T-Lymphocytes / metabolism
  • fas Receptor / deficiency*

Substances

  • Biomarkers
  • FAS protein, human
  • fas Receptor