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

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

Authors :
Guitton C
Ledeist F
Tchernia G
Bader-Meunier B
Source :
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie [Arch Pediatr] 2006 Apr; Vol. 13 (4), pp. 367-70. Date of Electronic Publication: 2006 Mar 09.
Publication Year :
2006

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.

Details

Language :
French
ISSN :
0929-693X
Volume :
13
Issue :
4
Database :
MEDLINE
Journal :
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie
Publication Type :
Academic Journal
Accession number :
16524705
Full Text :
https://doi.org/10.1016/j.arcped.2006.01.012