Dyserythropoiesis associated with a fas-deficient condition in childhood

Br J Haematol. 2000 Feb;108(2):300-4. doi: 10.1046/j.1365-2141.2000.01862.x.

Abstract

Defective lymphocyte apoptosis caused by mutations of the Fas gene can result in an autoimmune lymphoproliferative syndrome (ALPS) in humans. We report two cases of dyserythropoiesis associated with a Fas-deficient condition in childhood. In both cases, dyserythropoiesis predominated on the more mature erythroblasts, and was associated with a lymphoproliferative syndrome as well as with haemolytic anaemia, hypergammaglobulinaemia and the expansion of an unusual population of CD4- CD8- T cells that express the alpha/beta T-cell receptor. The regression of dyserythropoiesis under steroid therapy suggested that it resulted from an autoimmune mechanism, itself secondary to the lymphocyte Fas apoptosis deficiency. Fas-defective apoptosis may be a new aetiology for childhood dyserythropoiesis.

Publication types

  • Case Reports

MeSH terms

  • Anemia, Hemolytic / genetics*
  • Apoptosis / genetics
  • Child
  • Erythropoiesis / genetics*
  • Humans
  • Infant
  • Male
  • Mutation / genetics*
  • fas Receptor / genetics*

Substances

  • fas Receptor