Miriam Gross
University of Freiburg
6 Papers
Miriam Gross is an academic researcher from University of Freiburg. The author has contributed to research in topics: Medicine & Biology. The author has an hindex of 1, co-authored 1 publications.
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Papers
Retroviral UNC13D Gene Transfer Restores Cytotoxic Activity of T Cells Derived from Familial Hemophagocytic Lymphohistiocytosis Type 3 Patients In Vitro.
Viviane Dettmer,Kristie Bloom,Miriam Gross,Kristoffer Weissert,Peter Aichele,Stephan Ehl,Toni Cathomen +6 more
TL;DR: The data demonstrate that the established protocol can be applied to FHL-3 patient cells with various genetic backgrounds and that gamma-retroviral UNC13D transfer restored expression of functional Munc13-4, as well as degranulation capacity and cell-mediated cytotoxicity of patient-derived CD8+ T cells.
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Revisiting autoimmune lymphoproliferative syndrome caused by Fas ligand mutations.
Maria Elena Maccari,Pascal Schneider,Cristian R. Smulski,Andreas Meinhardt,Fernando Pinto,Luis Ignacio Gonzalez-Granado,Catharina Schuetz,Mauricio P. Sica,Miriam Gross,Ilka Fuchs,Patrick Kury,Maximilian Heeg,Tatjana Vocat,Laure Willen,Caroline Thomas,Regina Hühn,Aude Magerus,Myriam Ricarda Lorenz,Klaus Schwarz,Frédéric Rieux-Laucat,Stephan Ehl,Anne Rensing-Ehl +21 more
TL;DR: In this paper , the significance of heterozygous FASLG mutations as a cause of ALPS was revisited, and 24 individuals were analyzed in 24 individuals with homozygous or HOGFASLG variants predicted to be deleterious.
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Patients and mice with deficiency in the SNARE protein SYNTAXIN-11 have a secondary B cell defect
Tamara Kögl,Hsin Fang Chang,Julian Staniek,Samuel C C Chiang,Gudrun Thoulass,Jessica Lao,K. Weißert,Viviane Dettmer-Monaco,Kerstin Geiger,Paul T Manna,Vivien Béziat,Mana Momenilandi,Szu-Min Tu,Selina J Keppler,Varsha Pattu,Philipp Wolf,Laurence Kupferschmid,Stefan Tholen,Laura E. Covill,Karolina Ebert,Tobias Straub,Miriam Gross,Ruth Gather,Helena Engel,Ulrich Salzer,Christoph Schell,Sarah Maier,Kai Lehmberg,Tatjana I. Cornu,Hanspeter Pircher,Mohammad Shahrooei,Nima Parvaneh,Roland Elling,Marta Rizzi,Yenan T. Bryceson,Stephan Ehl,Peter Aichele,Sandra Ammann +37 more
TL;DR: STX11 deficiency leads to a secondary B cell defect characterized by hypogammaglobulinemia.
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Abnormal biomarkers predict complex FAS or FADD defects missed by exome sequencing.
Anne Rensing-Ehl,Myriam Ricarda Lorenz,M. Führer,Wolfgang Willenbacher,Ella Willenbacher,Sieghart Sopper,Mario Abinun,Maria Elena Maccari,Christoph König,Pauline Haegele,Sebastian Fuchs,Carla N. Castro,Patrick Kury,Olivier Pellé,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 F. Hebart,Karlheinz Seeger,Kai Lehmberg,Timothy Ronan Leahy,Alexander Claviez,Simon Vieth,Freimut H. Schilling,Ilka Fuchs,Miriam Gross,Frédéric Rieux-Laucat,Aude Magerus,Carsten Speckmann,Klaus Schwarz,Stephan Ehl,Ales Janda,Arnulf Pekrun,Bernd Buchholz,Catharina Schuetz,Charlotte M. Niemeyer,Claas Hinze,Fabian Hauck,Carl Friedrich Classen,Gregor Dückers,Hedwig E. Deubzer,H. Wittkowski,Henner Morbach,Horst von Bernuth,Jörg Leyh,Kaan Botzug,Kathrin Siepermann,Leo Kager,Linnea Schuez-Havupalo,Luis Ignacio Gonzalez Granado,Luis M. Allende,Markus G. Seidel,Martina Stiefel,Michael Albert,Nora Naumann-Bartsch,Peter Švec,Petr Smisek,Roman Crazzolara,Rosie Hague,Shahrzad Bakhtiar,Simone Storck,Sophie Hambleton,Stefan Schönberger,Thomas Kühne,Ulrich Baumann +77 more
TL;DR: A combination of serum biomarkers and DNT phenotyping is an accurate means to identify patients with ALPS who are missed by routine exome sequencing and allows targeted therapy with sirolimus.
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STAT3-confusion-of-function: beyond the loss and gain dualism.
Lorenzo Lodi,Laura Faletti,Maria Elena Maccari,Filippo Consonni,Miriam Gross,Ilaria Pagnini,Silvia Ricci,Maximilian Heeg,Gabriele Simonini,Chiara Azzari,Stephan Ehl +10 more
TL;DR: In this paper , a patient with Sjögren syndrome and features of AD-HIES with this mutation is described and the molecular consequences are further characterized, which is matched by an ambiguous clinical and immunological phenotype that dismantles the classical antithetic dualism of gain- versus loss-offunction.