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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.
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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 TCR β+ 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.
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[Abstract]
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