Disturbed B-lymphocytes selection in autoimmune lymphoproliferative syndrome
نویسندگان
چکیده
lymphoproliferative syndrome Aleš Janda, Aff1 Aff2 Corresponding Affiliation: Aff1 Klaus Schwarz, Aff3 Aff4 Mirjam van der Burg, Aff5 Werner Vach, Aff6 Hanna Ijspeert, Aff5 Myriam Ricarda Lorenz, Aff3 Magdeldin Elgizouli, Aff1 Kathrin Pieper, Aff1 Paul Fisch, Aff7 Joachim Hagel, Aff1 Raquel Lorenzetti, Aff1 Maximilian Seidl, Aff1 Aff7 Joachim Roesler, Aff8 Fabian Hauck, Aff9 Elisabetta Traggiai, Aff10 Carsten Speckmann, Aff1 Aff2 Anne Rensing-Ehl, Aff1 Stephan Ehl, Aff1 Aff2 Hermann Eibel, Aff1 Marta Rizzi, Aff1 Aff11
منابع مشابه
Disturbed B-lymphocyte selection in autoimmune lymphoproliferative syndrome.
Fas is a transmembrane receptor involved in the maintenance of tolerance and immune homeostasis. In murine models, it has been shown to be essential for deletion of autoreactive B cells in the germinal center. The role of Fas in human B-cell selection and in development of autoimmunity in patients carrying FAS mutations is unclear. We analyzed patients with either a somatic FAS mutation or a ge...
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Autoimmune lymphoproliferative Syndrome (ALPS) is a rare inherited disorder of apoptosis. It usually presents with chronic lymphadenopathy, splenomegaly, and symptomatic cytopenia in a child. Herein, we report a 14-year-old boy with symptoms misdiagnosed as hemophagocytic lymphohistiocytosis who was treated before ALPS was diagnosed for the patient. This case should alert pediatricians to consi...
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Background Autoimmune lymphoproliferative syndrome (ALPS) a disease which is based on primary violations lymphocyte apoptosis caused by various molecular defects: mutation in the proapoptotic receptor Fas (la ALPS type) or its ligand FasL (Ib type), a mutation in the gene caspase10 (type II), or an unidentified defect in the signaling pathway of Fas-receptor (III type). The typical clinical pic...
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متن کاملNatural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations.
Autoimmune lymphoproliferative syndrome (ALPS) presents in childhood with nonmalignant lymphadenopathy and splenomegaly associated with a characteristic expansion of mature CD4 and CD8 negative or double negative T-cell receptor αβ(+) T lymphocytes. Patients often present with chronic multilineage cytopenias due to autoimmune peripheral destruction and/or splenic sequestration of blood cells an...
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