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Am. J. Hum. Genet. 64:172–179, 1999 Linkage of Familial Hemophagocytic Lymphohistiocytosis to 10q21-22 and Evidence for Heterogeneity 1 1,2 1,2 4 Re´mi Dufourcq-Lagelouse, Nada Jabado, Franc¸oise Le Deist, Jean-Louis Ste´phan, 5 6 3 7 8 Ge´rard Souillet, Marrie Bruin, Etienne Vilmer, Marion Schneider, Gritta Janka, Alain Fischer,1,2 and Genevie`ve de Saint Basile1 1Unite´ de Recherches sur le De´velopement Normal et Pathologique du Syste`me Immunitaire INSERM U429 and 2 Unite´ d’Immunologie et d’He´matologie Pe´diatrique, Hoˆpital Necker–Enfants Malades, and 3 Unite´ d’He´matologie-Immunologie, Hoˆpital Robert Debre´, Paris; 4 Unite´ d’He´matologie et Oncologie Pe´diatrique, Saint Etienne, France; 5 Immuno-He´matologie Pe´diatrique, Hoˆpital Debrousse, Lyon; 6 Department of Pediatrics, Wilhelmina Children’s Hospital, Utrecht; 7 Institut fu¨r Ha¨mostaseologie und Transfusiosmedizin, Heinrich Universita¨t, Du¨sseldorf; and 8 Department of Hematology and Oncology, Children’s University Hospital, Hamburg Summary occurring during infancy or early childhood (Farquhar and Claireaux 1952; Henter et al. 1998). It is inherited Familial hemophagocytic lymphohistiocytosis (FHL) is as an autosomal recessive disease with an estimated fre- an autosomal recessive disorder characterized by the quency, in Sweden, of 1 child/50,000 live births (Henter early onset of overwhelming activation of T lymphocytes