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FAS-L, IL-10, and double-negative CD4- CD8- TCR alpha/beta+ T cells are reliable markers of autoimmune lymphoproliferative syndrome (ALPS) associated with FAS loss of function.
Magerus-Chatinet A, Stolzenberg MC, Loffredo MS, Neven B, Schaffner C, Ducrot N, Arkwright PD, Bader-Meunier B, Barbot J, Blanche S, Casanova JL, Debré M, Ferster A, Fieschi C, Florkin B, Galambrun C, Hermine O, Lambotte O, Solary E, Thomas C, Le Deist F, Picard C, Fischer A, Rieux-Laucat F. Magerus-Chatinet A, et al. Blood. 2009 Mar 26;113(13):3027-30. doi: 10.1182/blood-2008-09-179630. Epub 2009 Jan 27. Blood. 2009. PMID: 19176318 Free article.
Analysis of risk factors for myelodysplasias, leukemias and death from infection among patients with congenital neutropenia. Experience of the French Severe Chronic Neutropenia Study Group.
Donadieu J, Leblanc T, Bader Meunier B, Barkaoui M, Fenneteau O, Bertrand Y, Maier-Redelsperger M, Micheau M, Stephan JL, Phillipe N, Bordigoni P, Babin-Boilletot A, Bensaid P, Manel AM, Vilmer E, Thuret I, Blanche S, Gluckman E, Fischer A, Mechinaud F, Joly B, Lamy T, Hermine O, Cassinat B, Bellanné-Chantelot C, Chomienne C; French Severe Chronic Neutropenia Study Group. Donadieu J, et al. Haematologica. 2005 Jan;90(1):45-53. Haematologica. 2005. PMID: 15642668
Rituximab therapy for childhood Evans syndrome.
Bader-Meunier B, Aladjidi N, Bellmann F, Monpoux F, Nelken B, Robert A, Armari-Alla C, Picard C, Ledeist F, Munzer M, Yacouben K, Bertrand Y, Pariente A, Chaussé A, Perel Y, Leverger G. Bader-Meunier B, et al. Haematologica. 2007 Dec;92(12):1691-4. doi: 10.3324/haematol.11540. Haematologica. 2007. PMID: 18055994 Free article.
Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome).
Geneviève D, Proulle V, Isidor B, Bellais S, Serre V, Djouadi F, Picard C, Vignon-Savoye C, Bader-Meunier B, Blanche S, de Vernejoul MC, Legeai-Mallet L, Fischer AM, Le Merrer M, Dreyfus M, Gaussem P, Munnich A, Cormier-Daire V. Geneviève D, et al. Nat Genet. 2008 Mar;40(3):284-6. doi: 10.1038/ng.2007.66. Epub 2008 Feb 10. Nat Genet. 2008. PMID: 18264100
297 results