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TLR8/TLR7 dysregulation due to a novel TLR8 mutation causes severe autoimmune hemolytic anemia and autoinflammation in identical twins.
Published in:
American Journal of Hematology, 2022, v. 97, n. 3, p. 338, doi. 10.1002/ajh.26452
By:
- 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
Publication type:
Article
Utility of Ruxolitinib in a Child with Chronic Mucocutaneous Candidiasis Caused by a Novel STAT1 Gain-of-Function Mutation.
Published in:
Journal of Clinical Immunology, 2018, v. 38, n. 5, p. 589, doi. 10.1007/s10875-018-0519-6
By:
- 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
Publication type:
Article
Novel Case of Homozygous Interferon Alpha/Beta Receptor Alpha Chain (IFNAR1) Deficiency With Hemophagocytic Lymphohistiocytosis.
Published in:
Clinical Infectious Diseases, 2022, v. 74, n. 1, p. 136, doi. 10.1093/cid/ciaa1790
By:
- 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
Publication type:
Article

Found: 3

TLR8/TLR7 dysregulation due to a novel TLR8 mutation causes severe autoimmune hemolytic anemia and autoinflammation in identical twins.

Utility of Ruxolitinib in a Child with Chronic Mucocutaneous Candidiasis Caused by a Novel STAT1 Gain-of-Function Mutation.

Novel Case of Homozygous Interferon Alpha/Beta Receptor Alpha Chain (IFNAR1) Deficiency With Hemophagocytic Lymphohistiocytosis.