Human Genome Epidemiology Literature Finder
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Records 1 - 16 (of 16 Records) |
| Query Trace: Autoimmune Lymphoproliferative Syndrome and FAS[original query] |
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| The development of lymphomas in families with autoimmune lymphoproliferative syndrome with germline Fas mutations and defective lymphocyte apoptosis. Blood 2001 Jul 98 (1): 194-200. Straus S E, Jaffe E S, Puck J M, Dale J K, Elkon K B, Rösen-Wolff A, Peters A M, Sneller M C, Hallahan C W, Wang J, Fischer R E, Jackson C M, Lin A Y, Bäumler C, Siegert E, Marx A, Vaishnaw A K, Grodzicky T, Fleisher T A, Lenardo M |
| Variations of the perforin gene in patients with autoimmunity/lymphoproliferation and defective Fas function. Blood 2006 Nov 108 (9): 3079-84. Clementi Rita, Chiocchetti Annalisa, Cappellano Giuseppe, Cerutti Elisa, Ferretti Massimo, Orilieri Elisabetta, Dianzani Irma, Ferrarini Marina, Bregni Marco, Danesino Cesare, Bozzi Valeria, Putti Maria Caterina, Cerutti Franco, Cometa Angela, Locatelli Franco, Maccario Rita, Ramenghi Ugo, Dianzani Umber |
| Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome. Blood 2010 Jun 115 (25): 5164-9. Dowdell Kennichi C, Niemela Julie E, Price Susan, Davis Joie, Hornung Ronald L, Oliveira João Bosco, Puck Jennifer M, Jaffe Elaine S, Pittaluga Stefania, Cohen Jeffrey I, Fleisher Thomas A, Rao V Kone |
| A survey of 90 patients with autoimmune lymphoproliferative syndrome related to TNFRSF6 mutation. Blood 2011 Nov 118 (18): 4798-807. Neven Bénédicte, Magerus-Chatinet Aude, Florkin Benoit, Gobert Delphine, Lambotte Olivier, De Somer Lien, Lanzarotti Nina, Stolzenberg Marie-Claude, Bader-Meunier Brigitte, Aladjidi Nathalie, Chantrain Christophe, Bertrand Yves, Jeziorski Eric, Leverger Guy, Michel Gérard, Suarez Felipe, Oksenhendler Eric, Hermine Olivier, Blanche Stéphane, Picard Capucine, Fischer Alain, Rieux-Laucat Frédér |
| The -346T polymorphism of the SH2D1A gene is a risk factor for development of autoimmunity/lymphoproliferation in males with defective Fas function. Human immunology 2012 May 73 (5): 585-92. Boggio Elena, Melensi Matteo, Bocca Sara, Chiocchetti Annalisa, Comi Cristoforo, Clemente Nausicaa, Orilieri Elisabetta, Soluri Maria Felicia, D'Alfonso Sandra, Mechelli Rosella, Gentile Giovanna, Poggi Alessandro, Salvetti Marco, Ramenghi Ugo, Dianzani Umber |
| Sequential decisions on FAS sequencing guided by biomarkers in patients with lymphoproliferation and autoimmune cytopenia. Haematologica 2013 Dec 98 (12): 1948-55. Rensing-Ehl Anne, Janda Ales, Lorenz Myriam R, Gladstone Beryl P, Fuchs Ilka, Abinun Mario, Albert Michael, Butler Karina, Cant Andrew, Cseh Anna-Maria, Ebinger Martin, Goldacker Sigune, Hambleton Sophie, Hebart Holger, Houet Leonora, Kentouche Karim, Kühnle Ingrid, Lehmberg Kai, Mejstrikova Ester, Niemeyer Charlotte, Minkov Milen, Neth Olaf, Dückers Gregor, Owens Stephan, Rösler Joachim, Schilling Freimut H, Schuster Volker, Seidel Markus G, Smisek Petr, Sukova Martina, Svec Peter, Wiesel Thomas, Gathmann Benjamin, Schwarz Klaus, Vach Werner, Ehl Stephan, Speckmann Carst |
| Variations of the UNC13D gene in patients with autoimmune lymphoproliferative syndrome. PloS one 2013 8 (7): e68045. Aricò Maurizio, Boggio Elena, Cetica Valentina, Melensi Matteo, Orilieri Elisabetta, Clemente Nausicaa, Cappellano Giuseppe, Buttini Sara, Soluri Maria Felicia, Comi Cristoforo, Dufour Carlo, Pende Daniela, Dianzani Irma, Ellis Steven R, Pagliano Sara, Marcenaro Stefania, Ramenghi Ugo, Chiocchetti Annalisa, Dianzani Umber |
| Pediatric-onset Evans syndrome: Heterogeneous presentation and high frequency of monogenic disorders including LRBA and CTLA4 mutations. Clinical immunology (Orlando, Fla.) 2018 1 188 52-57. Besnard Caroline, Levy Eva, Aladjidi Nathalie, Stolzenberg Marie-Claude, Magerus-Chatinet Aude, Alibeu Olivier, Nitschke Patrick, Blanche Stéphane, Hermine Olivier, Jeziorski Eric, Landman-Parker Judith, Leverger Guy, Mahlaoui Nizar, Michel Gérard, Pellier Isabelle, Suarez Felipe, Thuret Isabelle, de Saint-Basile Geneviève, Picard Capucine, Fischer Alain, Neven Bénédicte, Rieux-Laucat Frédéric, Quartier Pierre, |
| Autoimmune Lymphoproliferative Syndrome in Children with Nonmalignant Organomegaly, Chronic Immune Cytopenia, and Newly Diagnosed Lymphoma. Turkish journal of haematology : official journal of Turkish Society of Haematology 2020 12 38 (2): 145-150. Kaya Zühre, I??k Melek, Oruklu Nihan, Kirkiz Serap, Ba?r?aç?k Emin Ümit, Allende Luis M., Díaz-Madroñero María J., Ruiz-García Raquel, P?narl? Faruk Güçlü, Göçün Uyar P?nar, Koçak Ülk |
| Clinical, immunological, and genetic features in 780 patients with autoimmune lymphoproliferative syndrome (ALPS) and ALPS-like diseases: A systematic review. Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology 2021 5 32 (7): 1519-1532. Hafezi Nasim, Zaki-Dizaji Majid, Nirouei Matineh, Asadi Gelayol, Sharifinejad Niusha, Jamee Mahnaz, Erfan Rasouli Seyed, Hamedifar Haleh, Sabzevari Araz, Chavoshzadeh Zahra, Yazdani Reza, Abolhassani Hassan, Aghamohammadi Asghar, Azizi Gholamre |
| Next Generation Sequencing for Detecting Somatic FAS Mutations in Patients With Autoimmune Lymphoproliferative Syndrome. Frontiers in immunology 2021 5 12 656356. López-Nevado Marta, Docampo-Cordeiro Jorge, Ramos José T, Rodríguez-Pena Rebeca, Gil-López Celia, Sánchez-Ramón Silvia, Gil-Herrera Juana, Díaz-Madroñero María J, Delgado-Martín María A, Morales-Pérez Pablo, Paz-Artal Estela, Magerus Aude, Rieux-Laucat Frederic, Allende Luis |
| Case Report: A Novel Pathogenic Missense Mutation in FAS: A Multi-Generational Case Series of Autoimmune Lymphoproliferative Syndrome. Frontiers in pediatrics 2021 4 9 624116. Gaefke Claudia L, Metts Jonathan, Imanirad Donya, Nieves Daime, Terranova Paola, Dell'Orso Gianluca, Gambineri Eleonora, Miano Maurizio, Lockey Richard F, Walter Jolan Eszter, Westermann-Clark Em |
| Case report: Neonatal autoimmune lymphoproliferative syndrome with a novel pathogenic homozygous FAS variant effectively treated with sirolimus. Frontiers in pediatrics 2023 5 11 1150179. Fawzia M Elgharbawy, Mohammed Yousuf Karim, Dina Sameh Soliman, Amel Siddik Hassan, Anoop Sudarsanan, Ashraf G |
| Abnormal biomarkers predict complex FAS or FADD defects missed by exome sequencing. The Journal of allergy and clinical immunology 2023 11 . Anne Rensing-Ehl, Myriam Ricarda Lorenz, Marita Führer, Wolfgang Willenbacher, Ella Willenbacher, Sieghart Sopper, Mario Abinun, Maria Elena Maccari, Christoph König, Pauline Haegele, Sebastian Fuchs, Carla Castro, Patrick Kury, Olivier Pelle, Christian Klemann, Maximilian Heeg, Julian Thalhammer, Oliver Wegehaupt, Marco Fischer, Sigune Goldacker, Björn Schulte, Saskia Biskup, Philippe Chatelain, Volker Schuster, Klaus Warnatz, Bodo Grimbacher, Andrea Meinhardt, Dirk Holzinger, Prasad Thomas Oommen, Tanja Hinze, Holger Hebart, Karlheinz Seeger, Kai Lehmberg, Timothy Ronan Leahy, Alexander Claviez, Simon Vieth, Freimut H Schilling, Ilka Fuchs, Miriam Groß, Frederic Rieux-Laucat, Aude Magerus, Carsten Speckmann, Klaus Schwarz, Stephan Ehl, |
| Revisiting autoimmune lymphoproliferative syndrome caused by Fas ligand mutations. The Journal of allergy and clinical immunology 2023 1 . Maccari Maria Elena, Schneider Pascal, Smulski Cristian Roberto, Meinhardt Andrea, Pinto Fernando, Gonzalez-Granado Luis Ignacio, Schuetz Catharina, Sica Mauricio Pablo, Gross Miriam, Fuchs Ilka, Kury Patrick, Heeg Maximilian, Vocat Tatjana, Willen Laure, Thomas Caroline, Hühn Regina, Magerus Aude, Lorenz Myriam, Schwarz Klaus, Rieux-Laucat Frederic, Ehl Stephan, Rensing-Ehl An |
| Study of the potential role of CASPASE-10 mutations in the development of autoimmune lymphoproliferative syndrome. Cell death & disease 2024 5 15 (5): 315. Filippo Consonni, Solange Moreno, Blanca Vinuales Colell, Marie-Claude Stolzenberg, Alicia Fernandes, Mélanie Parisot, Cécile Masson, Nathalie Neveux, Jérémie Rosain, Sarah Bamberger, Marie-Gabrielle Vigue, Marion Malphettes, Pierre Quartier, Capucine Picard, Frédéric Rieux-Laucat, Aude Mager |
- Page last reviewed:Feb 1, 2024
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