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gene effect
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MUDr. Markéta Bloomfield Ph.D.
Academic staff at Second Faculty of Medicine
58 publications
Publications
publication
TLR8/TLR7 dysregulation due to a novel TLR8 mutation causes severe autoimmune hemolytic anemia and autoinflammation in identical twins
2022 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Mathematics and Physics
publication
Immunodeficiency
2021 |
Second Faculty of Medicine
publication
Extreme hypokalaemia in familial periodic paralysis - case report
2020 |
First Faculty of Medicine, Second Faculty of Medicine
publication
CVID-Associated Tumors: Czech Nationwide Study Focused on Epidemiology, Immunology, and Genetic Background in a Cohort of Patients With CVID
2019 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Medicine in Hradec Králové
publication
Early diagnosis of severe primary immunodeficiencies, TREC/KREC assay
2019 |
First Faculty of Medicine, Second Faculty of Medicine, Third Faculty of Medicine
publication
Unexpected relevant role of gene mosaicism in patients with primary immunodeficiency diseases
2019 |
Second Faculty of Medicine
publication
Utility of Ruxolitinib in a Child with Chronic Mucocutaneous Candidiasis Caused by a Novel STAT1 Gain-of-Function Mutation
2018 |
First Faculty of Medicine, Second Faculty of Medicine
publication
JAK-inhibitor treatment for inborn errors of JAK/STAT signaling: An ESID and EBMT IEWP retrospective study
2024 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Medicine in Pilsen
publication
Children's pneumology
2023 |
First Faculty of Medicine, Second Faculty of Medicine, Third Faculty of Medicine, Faculty of Physical Education and Sport
publication
B cell phenotype and serum levels of interferons, BAFF, and APRIL in multisystem inflammatory syndrome in children associated with COVID-19 (MIS-C)
2023 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Medicine in Pilsen
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