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Bianca Tesi
Bianca Tesi
MD, PhD, Consultant in Clinical genetics, Karolinska University Hospital
在 ki.se 的电子邮件经过验证
标题
引用次数
引用次数
年份
Cytomegalovirus Infection Drives Adaptive Epigenetic Diversification of NK Cells with Altered Signaling and Effector Function
H Schlums, F Cichocki, B Tesi, J Theorell, V Beziat, TD Holmes, H Han, ...
Immunity 42 (3), 443-456, 2015
7452015
Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms
B Tesi, J Davidsson, M Voss, E Rahikkala, TD Holmes, SCC Chiang, ...
Blood 129 (16), 2266-2279, 2017
2122017
The syndrome of hemophagocytic lymphohistiocytosis in primary immunodeficiencies: implications for differential diagnosis and pathogenesis
SFN Bode, S Ammann, W Al-Herz, M Bataneant, CC Dvorak, S Gehring, ...
Haematologica 100 (7), 978-988, 2015
1802015
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients
H Stranneheim, K Lagerstedt-Robinson, M Magnusson, M Kvarnung, ...
Genome Medicine 13 (1), 1-15, 2021
1692021
Targeting SAMHD1 with the Vpx protein to improve cytarabine therapy for hematological malignancies
N Herold, SG Rudd, L Ljungblad, K Sanjiv, IH Myrberg, CBJ Paulin, ...
Nature medicine 23 (2), 256-263, 2017
1272017
ARID5B regulates metabolic programming in human adaptive NK cells
F Cichocki, CY Wu, B Zhang, M Felices, B Tesi, K Tuininga, P Dougherty, ...
Journal of Experimental Medicine 215 (9), 2379-2395, 2018
1222018
Hemophagocytic lymphohistiocytosis in 2 patients with underlying IFN-γ receptor deficiency
B Tesi, E Sieni, C Neves, F Romano, V Cetica, AI Cordeiro, S Chiang, ...
Journal of Allergy and Clinical Immunology 135 (6), 1638-1641. e5, 2015
882015
Nordic guidelines for germline predisposition to myeloid neoplasms in adults: recommendations for genetic diagnosis, clinical management and follow-up
P Baliakas, B Tesi, U Wartiovaara-Kautto, A Stray-Pedersen, LS Friis, ...
Hemasphere 3 (6), 2019
812019
Diversification and functional specialization of human NK cell subsets
F Cichocki, H Schlums, J Theorell, B Tesi, JS Miller, HG Ljunggren, ...
Natural Killer Cells, 63-93, 2015
772015
Human DEF6 deficiency underlies an immunodeficiency syndrome with systemic autoimmunity and aberrant CTLA-4 homeostasis
NK Serwas, B Hoeger, RC Ardy, SV Stulz, Z Sui, N Memaran, M Meeths, ...
Nature communications 10 (1), 3106, 2019
712019
Epigenetic Regulation of Adaptive NK Cell Diversification
B Tesi, H Schlums, F Cichocki, YT Bryceson
Trends in immunology 37 (7), 451-461, 2016
672016
Pathophysiology and spectrum of diseases caused by defects in lymphocyte cytotoxicity
M Meeths, SCC Chiang, A Löfstedt, ML Müller, B Tesi, JI Henter, ...
Experimental cell research 325 (1), 10-17, 2014
492014
Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis
B Tesi, K Lagerstedt-Robinson, SCC Chiang, EB Bdira, M Abboud, ...
Genome medicine 7 (1), 1-13, 2015
472015
Successful hematopoietic stem cell transplantation in a patient with LPS-responsive beige-like anchor (LRBA) gene mutation
B Tesi, P Priftakis, F Lindgren, SCC Chiang, N Kartalis, A Löfstedt, ...
Journal of clinical immunology 36 (5), 480-489, 2016
422016
Spectrum of Atypical Clinical Presentations in Patients with Biallelic PRF1 Missense Mutations
B Tesi, SCC Chiang, D El‐Ghoneimy, AA Hussein, C Langenskiöld, ...
Pediatric blood & cancer 62 (12), 2094-2100, 2015
412015
Differences in Granule Morphology yet Equally Impaired Exocytosis among Cytotoxic T Cells and NK Cells from Chediak–Higashi Syndrome Patients
SCC Chiang, SM Wood, B Tesi, HH Akar, W Al-Herz, S Ammann, ...
Frontiers in Immunology 8, 426, 2017
382017
Immunomodulatory activity of commonly used drugs on Fc-receptor-mediated human natural killer cell activation
J Theorell, AL Gustavsson, B Tesi, K Sigmundsson, HG Ljunggren, ...
Cancer Immunology, Immunotherapy 63 (6), 627-641, 2014
342014
An N-terminal missense mutation in STX11 causative of FHL4 abrogates syntaxin-11 binding to Munc18-2
ML Müller, SCC Chiang, M Meeths, B Tesi, M Entesarian, D Nilsson, ...
302014
A RAB27A 5′ untranslated region structural variant associated with late-onset hemophagocytic lymphohistiocytosis and normal pigmentation
B Tesi, J Rascon, SCC Chiang, B Burnyte, A Löfstedt, A Fasth, ...
Journal of Allergy and Clinical Immunology, 2018
262018
An Indian boy with griscelli syndrome type 2: Case report and review of literature
A Singh, A Garg, S Kapoor, N Khurana, M Entesarian, B Tesi
Indian Journal of Dermatology 59 (4), 394, 2014
242014
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