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Bianca Tesi
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Journal Articles

Efficacy of T-cell assays for the diagnosis of primary defects in cytotoxic lymphocyte exocytosis

Samuel C. C. Chiang, Laura E. Covill, Bianca Tesi, Tessa M. Campbell, Heinrich Schlums, Jelve Nejati-Zendegani, Karina Mördrup, Stephanie Wood, Jakob Theorell, Takuya Sekine, Waleed Al-Herz, Himmet Haluk Akar, Fatma Burcu Belen, Mei Yoke Chan, Omer Devecioglu, Tekin Aksu, Marianne Ifversen, Iwona Malinowska, Magnus Sabel, Ekrem Unal, Sule Unal, Wendy J. Introne, Konrad Krzewski, Kimberly C. Gilmour, Stephan Ehl, Hans-Gustaf Ljunggren, Magnus Nordenskjöld, AnnaCarin Horne, Jan-Inge Henter, Marie Meeths, Yenan T. Bryceson
Journal: Blood
Blood (2024) 144 (8): 873–887.
https://doi.org/10.1182/blood.2024024499
Published: 2024
Includes: Supplemental data
Journal Articles

The clinical picture of ERCC6L2 disease: from bone marrow failure to acute leukemia

Clinical Trials & Observations
Marja Hakkarainen, Ilse Kaaja, Suvi P. M. Douglas, Tom Vulliamy, Inderjeet Dokal, Jean Soulier, Lise Larcher, Régis Peffault de Latour, Thierry Leblanc, Flore Sicre de Fontbrune, Timo Siitonen, Olli Lohi, Eva Hellström-Lindberg, Gisela Barbany, Bianca Tesi, Akiko Shimamura, Fabian Beier, Sharon Jackson, Amir Asher Kuperman, Tzipora Falik Zaccai, Hannah Tamary, Cristina Mecucci, Ilaria Capolsini, Kirsi Jahnukainen, Urpu Salmenniemi, Riitta Niinimäki, Teppo Varilo, Outi Kilpivaara, Ulla Wartiovaara-Kautto
Journal: Blood
Blood (2023) 141 (23): 2853–2866.
https://doi.org/10.1182/blood.2022019425
Published: 2023
Includes: Supplemental data
Journal Articles

Multinational Study on the Clinical and Genetic Features of the ERCC6L2-Disease

Marja Hakkarainen, Suvi P. M. Douglas, Tom Vulliamy, Inderjeet Dokal, Jean Soulier, Lise Larcher, Riitta Niinimäki, Timo Siitonen, Eva Hellstrom Lindberg, Gisela Barbany, Bianca Tesi, Amir Asher Kuperman, Hannah Tamary, Sharon Jackson, Outi Kilpivaara, Ulla Wartiovaara-Kautto
Journal: Blood
Blood (2021) 138 (Supplement 1): 864.
https://doi.org/10.1182/blood-2021-145039
Published: 2021
Journal Articles

Whole Transcriptome Analysis Identifies Distinct Gene Expression Profiles between SF3B1 mut and SF3B1 wt Myelodysplastic Syndrome with Ring Sideroblasts

Gabriele Todisco, Maria Creignou, Elsa Bernard, Ann-Charlotte Björklund, Pedro Luis Moura, Monika Jansson, David Chang, Sigita Venckute, Gunilla Walldin, Luca Malcovati, Bianca Tesi, Teresa Mortera-Blanco, Indira Barbosa, Elli Papaemmanuil, Eva Hellstrom Lindberg
Journal: Blood
Blood (2021) 138 (Supplement 1): 3695.
https://doi.org/10.1182/blood-2021-150180
Published: 2021
Journal Articles

HLH: genomics illuminates pathophysiological diversity

Bianca Tesi, Yenan T. Bryceson
Journal: Blood
Blood (2018) 132 (1): 5–7.
https://doi.org/10.1182/blood-2018-05-845818
Published: 2018
Journal Articles

Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms

Bianca Tesi, Josef Davidsson, Matthias Voss, Elisa Rahikkala, Tim D. Holmes, Samuel C. C. Chiang, Jonna Komulainen-Ebrahim, Sorina Gorcenco, Alexandra Rundberg Nilsson, Tim Ripperger, Hannaleena Kokkonen, David Bryder, Thoas Fioretos, Jan-Inge Henter, Merja Möttönen, Riitta Niinimäki, Lars Nilsson, Cornelis Jan Pronk, Andreas Puschmann, Hong Qian, Johanna Uusimaa, Jukka Moilanen, Ulf Tedgård, Jörg Cammenga, Yenan T. Bryceson
Journal: Blood
Blood (2017) 129 (16): 2266–2279.
https://doi.org/10.1182/blood-2016-10-743302
Published: 2017
Includes: Supplemental data
Journal Articles

Cytopenia, Predisposition to Myelodysplastic Syndrome, Immunodeficiency, and Neurological Disease Caused By Gain-of-Function SAMD9L Mutations Is Frequently Ameliorated By Hematopoietic Revertant Mosaicism

Bianca Tesi, Josef Davidsson, Matthias Voss, Timothy Holmes, Tim Ripperger, Samuel Chiang, Lars Nilsson, Magnus Nordenskjöld, Jan-Inge Henter, David Bryder, Thoas Fioretos, Johanna Uusimaa, Jonna Komulainen-Ebrahim, Merja Möttönen, Riitta Niinimäki, Jukka Moilanen, Elisa Rahikkala, Ulf Tedgård, Jörg Cammenga, Yenan Bryceson
Journal: Blood
Blood (2016) 128 (22): 4299.
https://doi.org/10.1182/blood.V128.22.4299.4299
Published: 2016