[Auto-immune hemolytic anemia and dyserythropoïesis as the presenting signs of Fas-deficient condition in 3 children]

Arch Pediatr. 2006 Apr;13(4):367-70. doi: 10.1016/j.arcped.2006.01.012. Epub 2006 Mar 9.
[Article in French]

Abstract

Defective apoptosis caused by mutations of the Fas gene can lead to an autoimmune lymphoproliferative syndrome (ALPS). The main autoimmune manifestations are haematological: hemolytic anemia, thrombocytopenia and neutropenia. We described 3 patients with ALPS presenting as a lymphoproliferative syndrome associated with a Coomb's negative autoimmune hemolytic anemia and dyserythropoiesis predominating on the more mature erythroblasts. Fas apoptosis deficiency was evidenced in the 3 patients by the demonstration of an increased number of CD4(-)CD8(-)TCRalphabeta(+) T cells, a decreased apoptotic response of activated T lymphocytes to anti-Apo 1-3 monoclonal antibody and the presence of a heterozygous mutation of the Fas receptor gene.

Publication types

  • Case Reports

MeSH terms

  • Anemia, Dyserythropoietic, Congenital / genetics*
  • Anemia, Hemolytic, Autoimmune / genetics*
  • Apoptosis / genetics*
  • Child, Preschool
  • Hepatomegaly / genetics
  • Humans
  • Infant
  • Male
  • Mutation
  • Splenomegaly / genetics
  • fas Receptor / genetics*

Substances

  • fas Receptor