EuroFlow Standardized Approach to Diagnostic Immunopheneotyping of Severe PID in Newborns and Young Children

Autor: Tomas Kalina, Marina Bakardjieva, Maartje Blom, Martin Perez-Andres, Barbara Barendregt, Veronika Kanderová, Carolien Bonroy, Jan Philippé, Elena Blanco, Ingrid Pico-Knijnenburg, Jitse H. M. P. Paping, Beata Wolska-Kuśnierz, Malgorzata Pac, Jakub Tkazcyk, Filomeen Haerynck, Himmet Haluk Akar, Renata Formánková, Tomáš Freiberger, Michael Svatoň, Anna Šedivá, Sonia Arriba-Méndez, Alberto Orfao, Jacques J. M. van Dongen, Mirjam van der Burg

Publikováno v: Frontiers in Immunology, Vol 11 (2020)

The EuroFlow PID consortium developed a set of flow cytometry tests for evaluation of patients with suspicion of primary immunodeficiency (PID). In this technical report we evaluate the performance of the SCID-RTE tube that explores the presence of r

Externí odkaz: https://doaj.org/article/efebb1518bb54335a66cb17598471d1f

Complex genetic and histopathological study of 15 patient-derived xenografts of aggressive lymphomas

Autor: Radek Jakša, Jana Karolová, Michael Svatoň, Dmitry Kazantsev, Martina Grajciarová, Eva Pokorná, Zbyněk Tonar, Magdalena Klánová, Lucie Winkowska, Diana Maláriková, Petra Vočková, Kristina Forsterová, Nicol Renešová, Alexandra Dolníková, Kristýna Nožičková, Pavel Dundr, Eva Froňková, Marek Trněný, Pavel Klener

Publikováno v: Laboratory Investigation. 102:957-965

Non-Hodgkin lymphomas (NHL) represent the most common hematologic malignancies. Patient-derived xenografts (PDXs) are used for various aspects of translational research including preclinical in vivo validation of experimental treatment approaches. Wh

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4376d6c672b99e78da472164a66fbbc
https://doi.org/10.1038/s41374-022-00784-w

Quality control and quantification in IG/TR next-generation sequencing marker identification: protocols and bioinformatic functionalities by EuroClonality-NGS

Autor: Jos Rijntjes, K. Stamatopoulos, C. Pott, Ramón García-Sanz, Karla Plevová, Giovanni Cazzaniga, Elizabeth Macintyre, Nikos Darzentas, Blanca Scheijen, John Moppett, F. Appelt, Jack Bartram, Eva Froňková, Michael Svatoň, Frederic Davi, Michaela Kotrova, Jan Trka, Simona Songia, Kamila Stránská, Andrea Grioni, Henrik Knecht, Monika Brüggemann, David Gonzalez, Dietrich Herrmann, Michael Hummel, Karol Pál, Anthonie Willem Langerak, Tomáš Reigl, Adam Krejci, van Dongen Jjm, Groenen Pjta, J. Hancock, Peter Stewart, Bystry

Publikováno v: Leukemia
Leukemia, 33, 9, pp. 2254-2265
Leukemia, 33(9), 2254-2265. Nature Publishing Group
Digital.CSIC. Repositorio Institucional del CSIC
instname
Leukemia, 33, 2254-2265
Leukemia, 33(9), 2254-2265. NATURE PUBLISHING GROUP
EuroClonality-NGS Working Group 2019, ' Quality control and quantification in IG/TR next-generation sequencing marker identification: protocols and bioinformatic functionalities by EuroClonality-NGS ', Leukemia . https://doi.org/10.1038/s41375-019-0499-4

Assessment of clonality, marker identification and measurement of minimal residual disease (MRD) of immunoglobulin (IG) and T cell receptor (TR) gene rearrangements in lymphoid neoplasms using next-generation sequencing (NGS) is currently under inten

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de78cda79a5e6031838658ea5f867c70
https://hdl.handle.net/1887/121552

The TREC/KREC Assay for the Diagnosis and Monitoring of Patients with DiGeorge Syndrome

Autor: Jana Kayserova, Petra Keslova, Hana Vinohradská, Tomáš Freiberger, Michaela Kotrova, Felix Votava, Adam Klocperk, Tomas Kalina, Ester Mejstříková, Michael Svatoň, Eva Froňková, Michaela Novakova, Anna Sediva, Jan Trka

Publikováno v: PLoS ONE
PLoS ONE, Vol 9, Iss 12, p e114514 (2014)

DiGeorge syndrome (DGS) presents with a wide spectrum of thymic pathologies. Nationwide neonatal screening programs of lymphocyte production using T-cell recombination excision circles (TREC) have repeatedly identified patients with DGS. We tested wh

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7aba93eadfdb96505ed698bdad96f57e
http://europepmc.org/articles/PMC4259354

Novel SAMD9 Mutation in a Patient With Immunodeficiency, Neutropenia, Impaired Anti-CMV Response, and Severe Gastrointestinal Involvement

Autor: Renata Formankova, Veronika Kanderova, Marketa Rackova, Michael Svaton, Tomas Brdicka, Petr Riha, Petra Keslova, Ester Mejstrikova, Marketa Zaliova, Tomas Freiberger, Hana Grombirikova, Zuzana Zemanova, Marcela Vlkova, Filip Fencl, Ivana Copova, Jiri Bronsky, Petr Jabandziev, Petr Sedlacek, Jana Soukalova, Ondrej Zapletal, Jan Stary, Jan Trka, Tomas Kalina, Karolina Skvarova Kramarzova, Eva Hlavackova, Jiri Litzman, Eva Fronkova

Publikováno v: Frontiers in Immunology, Vol 10 (2019)

Mutations in the Sterile alpha motif domain containing 9 (SAMD9) gene have been described in patients with severe multisystem disorder, MIRAGE syndrome, but also in patients with bone marrow (BM) failure in the absence of other systemic symptoms. The

Externí odkaz: https://doaj.org/article/bd4b5e4e6b0447a18fa5370f40186de9