Utility of Ruxolitinib in a Child with Chronic Mucocutaneous Candidiasis Caused by a Novel STAT1 Gain-of-Function Mutation von Bloomfield, Markéta, Kanderová, Veronika, Paračková, Zuzana, Vrabcová, Petra, Svatoň, Michael, Froňková, Eva, Fejtková, Martina, Zachová, Radana, Rataj, Michal, Zentsová, Irena, Milota, Tomáš, Klocperk, Adam, Kalina, Tomáš, Šedivá, Anna

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TLR8/TLR7 dysregulation due to a novel TLR8 mutation causes severe autoimmune hemolytic anemia and autoinflammation in identical twins von Fejtkova, Martina, Sukova, Martina, Hlozkova, Katerina, Skvarova Kramarzova, Karolina, Rackova, Marketa, Jakubec, David, Bakardjieva, Marina, Bloomfield, Marketa, Klocperk, Adam, Parackova, Zuzana, Sediva, Anna, Aluri, Jahnavi, Novakova, Michaela, Kalina, Tomas, Fronkova, Eva, Hrusak, Ondrej, Malcova, Hana, Sedlacek, Petr, Liba, Zuzana, Kudr, Martin, Stary, Jan, Cooper, Megan A., Svaton, Michael, Kanderova, Veronika

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Early-onset pulmonary and cutaneous vasculitis driven by constitutively active SRC-family kinase HCK von Kanderova, Veronika, Svobodova, Tamara, Borna, Simon, Fejtkova, Martina, Martinu, Vendula, Paderova, Jana, Svaton, Michael, Kralova, Jarmila, Fronkova, Eva, Klocperk, Adam, Pruhova, Stepanka, Lee-Kirsch, Min Ae, Hornofova, Ludmila, Koblizek, Miroslav, Novak, Petr, Zimmermannova, Olga, Parackova, Zuzana, Sediva, Anna, Kalina, Tomas, Janda, Ales, Kayserova, Jana, Dvorakova, Marcela, Macek, Milan, Pohunek, Petr, Sedlacek, Petr, Poh, Ashleigh, Ernst, Matthias, Brdicka, Tomas, Hrusak, Ondrej, Lebl, Jan

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Lymphoproliferation, immunodeficiency and early-onset inflammatory bowel disease associated with a novel mutation in Caspase 8 von Kanderova, Veronika, Grombirikova, Hana, Zentsova, Irena, Reblova, Kamila, Klocperk, Adam, Fejtkova, Martina, Bloomfield, Marketa, Ravcukova, Barbora, Kalina, Tomas, Freiberger, Tomas, Sediva, Anna

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A Novel Case of Homozygous Interferon Alpha/Beta Receptor Alpha Chain (IFNAR1) Deficiency With Hemophagocytic Lymphohistiocytosis von Gothe, Florian, Hatton, Catherine F, Truong, Linh, Klimova, Zofia, Kanderova, Veronika, Fejtkova, Martina, Grainger, Angela, Bigley, Venetia, Perthen, Joanna, Mitra, Dipayan, Janda, Ales, Fronkova, Eva, Moravcikova, Dusana, Hambleton, Sophie, Duncan, Christopher J A

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Clinical Outcomes, Immunogenicity, and Safety of BNT162b2 Vaccine in Primary Antibody Deficiency von Milota, Tomas, Smetanova, Jitka, Skotnicova, Aneta, Rataj, Michal, Lastovicka, Jan, Zelena, Hana, Parackova, Zuzana, Fejtkova, Martina, Kanderova, Veronika, Fronkova, Eva, Rejlova, Katerina, Sediva, Anna, Kalina, Tomas

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A Novel Case of Homozygous Interferon Alpha/Beta Receptor Alpha Chain (IFNAR1) Deficiency With Hemophagocytic Lymphohistiocytosis von Gothe, Florian, Hatton, Catherine F, Truong, Linh, Klimova, Zofia, Kanderova, Veronika, Fejtkova, Martina, Grainger, Angela, Bigley, Venetia, Perthen, Joanna, Mitra, Dipayan, Janda, Ales, Fronkova, Eva, Moravcikova, Dusana, Hambleton, Sophie, Duncan, Christopher J A

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Lymphoproliferation, immunodeficiency and early-onset inflammatory bowel disease associated with a novel mutation in Caspase 8 von Kanderova, Veronika, Grombirikova, Hana, Zentsova, Irena, Reblova, Kamila, Klocperk, Adam, Fejtkova, Martina, Bloomfield, Marketa, Ravcukova, Barbora, Kalina, Tomas, Freiberger, Tomas, Sediva, Anna

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