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Autoimmune lymphoproliferative syndrome with somatic Fas mutations.

BACKGROUND: Impaired Fas-induced apoptosis of lymphocytes in vitro is a principal feature of the autoimmune lymphoproliferative syndrome (ALPS). We studied six children with ALPS whose lymphocytes had normal sensitivity to Fas-induced apoptosis in vitro. METHODS: Susceptibility to Fas-mediated apoptosis and the Fas gene were analyzed in purified subgroups of T cells and other mononuclear cells from six patients with ALPS type III. RESULTS: Heterozygous dominant Fas mutations were detected in the polyclonal double-negative T cells from all six patients. In two patients, these mutations were found in a fraction of CD4+ and CD8+ T cells, monocytes, and CD34+ hematopoietic precursors, but not in hair or mucosal epithelial cells. CONCLUSIONS: Somatic heterozygous mutations of Fas can cause a sporadic form of ALPS by allowing lymphoid precursors to resist the normal process of cell death.

Pubmed ID: 15459302


  • Holzelova E
  • Vonarbourg C
  • Stolzenberg MC
  • Arkwright PD
  • Selz F
  • Prieur AM
  • Blanche S
  • Bartunkova J
  • Vilmer E
  • Fischer A
  • Le Deist F
  • Rieux-Laucat F


The New England journal of medicine

Publication Data

September 30, 2004

Associated Grants


Mesh Terms

  • Adolescent
  • Antigens, CD95
  • Apoptosis
  • Autoimmune Diseases
  • Cells, Cultured
  • Child
  • DNA Mutational Analysis
  • Female
  • Gene Expression
  • Hematopoiesis
  • Heterozygote
  • Humans
  • Lymphoproliferative Disorders
  • Male
  • Mosaicism
  • Mutation
  • Phenotype
  • Polymerase Chain Reaction
  • Receptors, Antigen, T-Cell
  • T-Lymphocytes