[Auto-immune hemolytic anemia and dyserythropoïesis as the presenting signs of Fas-deficient condition in 3 children]. / Anémie hémolytique auto-immune et dysérythropoïèse révélatrices d'un déficit de l'apoptose Fas chez 3 enfants.
Arch Pediatr
; 13(4): 367-70, 2006 Apr.
Article
em Fr
| MEDLINE
| ID: mdl-16524705
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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Apoptose
/
Receptor fas
/
Anemia Diseritropoética Congênita
/
Anemia Hemolítica Autoimune
Tipo de estudo:
Diagnostic_studies
Limite:
Child, preschool
/
Humans
/
Infant
/
Male
Idioma:
Fr
Revista:
Arch Pediatr
Ano de publicação:
2006
Tipo de documento:
Article
País de afiliação:
França