نتایج جستجو برای: autoimmune lymphoproliferative synd

تعداد نتایج: 67222  

Journal: :Haematologica 2013
Anne Rensing-Ehl Ales Janda Myriam R Lorenz Beryl P Gladstone Ilka Fuchs Mario Abinun Michael Albert Karina Butler Andrew Cant Anna-Maria Cseh Martin Ebinger Sigune Goldacker Sophie Hambleton Holger Hebart Leonora Houet Karim Kentouche Ingrid Kühnle Kai Lehmberg Ester Mejstrikova Charlotte Niemeyer Milen Minkov Olaf Neth Gregor Dückers Stephan Owens Joachim Rösler Freimut H Schilling Volker Schuster Markus G Seidel Petr Smisek Martina Sukova Peter Svec Thomas Wiesel Benjamin Gathmann Klaus Schwarz Werner Vach Stephan Ehl Carsten Speckmann

Clinical and genetic heterogeneity renders confirmation or exclusion of autoimmune lymphoproliferative syndrome difficult. To re-evaluate and improve the currently suggested diagnostic approach to patients with suspected FAS mutation, the most frequent cause of autoimmune lymphoproliferative syndrome, we prospectively determined 11 biomarkers in 163 patients with splenomegaly or lymphadenopathy...

2013
Michael C. Sneller Thomas A. Fleisher Maryalice Stetler-Stevenson

In mice, the two distinct autosomal recessive genes lpr and gid can induce a syndrome characterized by autoantibody formation and the progressive accumulation of an unusual CD4-CD8T cell population in peripheral lymphoid tissue. This phenotype does not precisely mirror any human disease. In this report we describe two patients with a progressive lymphoproliferative disorder associated with auto...

2012
Giovanni D’Arena Giovanni Rossi Barbara Vannata Silvia Deaglio Giovanna Mansueto Fiorella D’Auria Teodora Statuto Vittorio Simeon Laura De Martino Aurelio Marandino Giovanni Del Poeta8 Vincenzo De Feo Pellegrino Musto

Regulatory T-cells (Tregs) constitute a small subset of cells that are actively involved in maintaining self-tolerance, in immune homeostasis and in antitumor immunity. They are thought to play a significant role in the progression of cancer and are generally increased in patient with chronic lymphocytic leukemia (CLL). Their number correlates with more aggressive disease status and is predicti...

Journal: :Haematologica 2005
Santhosh Narat Jagdeesh Gandla Allan Victor Hoffbrand Robert George Hughes Atul B Mehta

We report the results of four cycles of rituximab therapy in eleven patients with chronic warm antibody type autoimmune hemolytic anemia (AIHA) and six patients with chronic idiopathic thrombocytopenia (ITP). The overall response rate was 64% in the AIHA group (3 complete responses and 4 partial responses) and 83% in the ITP group (4 complete responses, 1 partial response). Responses in AIHA pa...

Journal: :Blood 2001
J J Bleesing M R Brown S E Straus J K Dale R M Siegel M Johnson M J Lenardo J M Puck T A Fleisher

Autoimmune lymphoproliferative syndrome (ALPS) type Ia is caused by inherited defects in apoptosis and is characterized by nonmalignant lymphoaccumulation, autoimmunity, and increased alpha/beta(+) double-negative T cells (alpha/beta(+)-DNT cells). This study reports immunophenotypic findings in 166 members of 31 families with ALPS type Ia, associated with genetic mutations in the TNFRSF6 gene ...

Journal: :Hematology. American Society of Hematology. Education Program 2009
Luigi D Notarangelo

Autoimmune manifestations are increasingly being recognized as a component of several forms of primary immunodeficiencies (PID). Defects in purging of self-reactive T and B cells, impaired Fas-mediated apoptosis, abnormalities in development and/or function of regulatory T cells, and persistence of immune activation as a result of inability to clear infections have been shown to account for thi...

2015
Aleš Janda Klaus Schwarz Mirjam van der Burg Werner Vach Hanna Ijspeert Myriam Ricarda Lorenz Magdeldin Elgizouli Kathrin Pieper Paul Fisch Joachim Hagel Raquel Lorenzetti Maximilian Seidl Joachim Roesler Fabian Hauck Elisabetta Traggiai Carsten Speckmann Anne Rensing-Ehl Stephan Ehl Hermann Eibel Marta Rizzi

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...

Journal: :Blood 2016
Ales Janda Klaus Schwarz Mirjam van der Burg Werner Vach Hanna Ijspeert Myriam Ricarda Lorenz Magdeldin Elgizouli Kathrin Pieper Paul Fisch Joachim Hagel Raquel Lorenzetti Maximilian Seidl Joachim Roesler Fabian Hauck Elisabetta Traggiai Carsten Speckmann Anne Rensing-Ehl Stephan Ehl Hermann Eibel Marta Rizzi

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...

Journal: :The Journal of clinical investigation 1992
M C Sneller S E Straus E S Jaffe J S Jaffe T A Fleisher M Stetler-Stevenson W Strober

In mice, the two distinct autosomal recessive genes lpr and gld can induce a syndrome characterized by autoantibody formation and the progressive accumulation of an unusual CD4-CD8- T cell population in peripheral lymphoid tissue. This phenotype does not precisely mirror any human disease. In this report we describe two patients with a progressive lymphoproliferative disorder associated with au...

Journal: :Turkish journal of haematology : official journal of Turkish Society of Haematology 2007
Zümrüt Uysal Mehmet Ertem Dilber Talia İleri Figen Doğu Fatih Mehmet Azık Aydan İkincioğulları Sevgi Gözdaşoğlu

Autoimmune lymphoproliferative syndrome (ALPS) is a rare childhood disorder characterized by chronic non-malignant lymphoproliferation and autoimmunity. Patients with ALPS frequently exhibit episodic and intermittent, severe autoimmune- induced hemolytic anemia, thrombocytopenia or combined cytopenias. The co-occurrence of immune-mediated cytopenias, autoimmune thrombocytopenia and autoimmune h...

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