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Blood, 26 March 2009, Vol. 113, No. 13, pp. 3027-3030. Prepublished online as a Blood First Edition Paper on January 27, 2009; DOI 10.1182/blood-2008-09-179630. This Article Full Text Full Text (PDF) Supplemental Figure All Versions of this Article: blood-2008-09-179630v1 113/13/3027    most recent Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Magerus-Chatinet, A. Articles by Rieux-Laucat, F. Search for Related Content PubMed PubMed Citation Articles by Magerus-Chatinet, A. Articles by Rieux-Laucat, F. Related Collections Immunobiology Brief Reports Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  IMMUNOBIOLOGY Brief report FAS-L, IL-10, and double-negative CD4–CD8– TCR /β+ T cells are reliable markers of autoimmune lymphoproliferative syndrome (ALPS) associated with FAS loss of function Aude Magerus-Chatinet1,2, Marie-Claude Stolzenberg1,2, Maria S. Loffredo1,2, Bénédicte Neven13, Catherine Schaffner1,2, Nicolas Ducrot1,2, Peter D. Arkwright4, Brigitte Bader-Meunier3, José Barbot5, Stéphane Blanche3, Jean-Laurent Casanova2,3,6, Marianne Debré3, Alina Ferster7, Claire Fieschi8, Benoit Florkin9, Claire Galambrun10, Olivier Hermine2,3,11, Olivier Lambotte12, Eric Solary13, Caroline Thomas14, Francoise Le Deist15, Capucine Picard2,3,16, Alain Fischer13, and Frédéric Rieux-Laucat1,2 1 Inserm U768, Paris, France; 2 Université Paris Descartes, Paris, France; 3 Unité d'Immunologie et d'Hématologie Pédiatrique, Hôpital Necker-Enfants Malades, Assistance Publique des Hôpitaux de Paris (AP-HP), Paris, France; 4 Department of Pediatric Immunology, Newcastle General Hospital, Newcastle upon Tyne, United Kingdom; 5 Service d'Hématologie, Hôpital de Crianças Maria Pia, Porto, Portugal; 6 Inserm U550, Paris, France; 7 Hôpital Universitaire des Enfants-Reine Fabiola, Bruxelles, Belgium; 8 Unité d'Immunopathologie, Département d'Immunologie Clinique, Hôpital Saint-Louis, Paris, France; 9 Département de Pédiatrie, Centre Hospitalier Universitaire de Liège, Domaine Universitaire du Sart Tilman, Liège, Belgium; 10 Service d'hématologie pédiatrique, Hôpital des enfants de la Timone, Marseille, France; 11 Centre National de la Recherche Scientifique (CNRS) UMR 8147, Service d'Hématologie et Centre de Référence des Mastocytoses, Paris, France; 12 Service de Médecine Interne, Hôpital de Bicêtre, Le Kremlin-Bicêtre, France; 13 Unite Mixte de Recherche (UMR) 866, Faculté de Médecine, Dijon, France; 14 Service d'Oncologie Pédiatrique, Hôpital Mère Enfant, Nantes, France; 15 Department of Microbiology and Immunology, Centre Hospitalier Universitaire (CHU) Sainte-Justine, University of Montréal, Montréal, QC; and 16 Centre d'Etude des Déficits Immunitaires, Hôpital Necker-Enfants Malades, APHP, Paris, France Autoimmune lymphoproliferative syndrome (ALPS) is characterized by splenomegaly, lymphadenopathy, hypergammaglobulinemia, accumulation of double-negative TCRβ+ CD4–CD8– T cells (DNT cells), and autoimmunity. Previously, DNT cell detection and a functional defect of T cells in a FAS-induced apoptosis test in vitro had been used for ALPS diagnosis. However, a functional defect can also be detected in mutation-positive relatives (MPRs) who remain free of any ALPS-related disease. In contrast, lymphocytes from patients carrying a somatic mutation of FAS exhibit normal sensitivity to FAS-induced apoptosis in vitro. We assessed the soluble FAS-L concentration in the plasma of ALPS patients carrying FAS mutations. Overall, we showed that determination of the FAS-L represents, together with the IL-10 concentration and the DNT cell percentage, a reliable tool for the diagnosis of ALPS. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: A. E. Seif, C. S. Manno, C. Sheen, S. A. Grupp, and D. T. Teachey Identifying autoimmune lymphoproliferative syndrome in children with Evans syndrome: a multi-institutional study Blood, March 18, 2010; 115(11): 2142 - 2145. [Abstract] [Full Text] [PDF] Childhood Polyarteritis Nodosa in Autoimmune Lymphoproliferative Syndrome Pediatrics, January 1, 2010; 125(1): e169 - e173. M. Michel, V. Chanet, A. Dechartres, A.-S. Morin, J.-C. Piette, L. Cirasino, G. Emilia, F. Zaja, M. Ruggeri, E. Andres, et al. The spectrum of Evans syndrome in adults: new insight into the disease based on the analysis of 68 cases Blood, October 8, 2009; 114(15): 3167 - 3172. [Abstract] [Full Text] [PDF] L. D. Notarangelo Primary immunodeficiencies (PIDs) presenting with cytopenias Hematology, January 1, 2009; 2009(1): 139 - 143. [Abstract] [Full Text] [PDF]

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