[Auto-immune hemolytic anemia and dyserythropoïesis as the presenting signs of Fas-deficient condition in 3 children].
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.
Guitton
C
C
AP-HP, Hôpital de Bicêtre, Service de pédiatrie générale, 78, rue du G.-Leclerc, 94275 Le Kremlin-Bicêtre cedex, France. corinne.guitton@bct.aphp.fr
Ledeist
F
F
Tchernia
G
G
Bader-Meunier
B
B
D000742:Anemia, Dyserythropoietic, Congenital / Q000235:genetics*; D000744:Anemia, Hemolytic, Autoimmune / Q000235:genetics*; D017209:Apoptosis / Q000235:genetics*; D002675:Child, Preschool; D006529:Hepatomegaly / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D013163:Splenomegaly / Q000235:genetics; D019014:fas Receptor / Q000235:genetics*
D019014:fas Receptor