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Page 1
A Novel Case of Homozygous Interferon Alpha/Beta Receptor Alpha Chain (IFNAR1) Deficiency With Hemophagocytic Lymphohistiocytosis.
Gothe F, Hatton CF, Truong L, Klimova Z, Kanderova V, Fejtkova M, Grainger A, Bigley V, Perthen J, Mitra D, Janda A, Fronkova E, Moravcikova D, Hambleton S, Duncan CJA. Gothe F, et al. Among authors: fronkova e. Clin Infect Dis. 2022 Jan 7;74(1):136-139. doi: 10.1093/cid/ciaa1790. Clin Infect Dis. 2022. PMID: 33252644 Free PMC article.
IL-17-driven induction of Paneth cell antimicrobial functions protects the host from microbiota dysbiosis and inflammation in the ileum.
Brabec T, Vobořil M, Schierová D, Valter E, Šplíchalová I, Dobeš J, Březina J, Dobešová M, Aidarova A, Jakubec M, Manning J, Blumberg R, Waisman A, Kolář M, Kubovčiak J, Šrůtková D, Hudcovic T, Schwarzer M, Froňková E, Pinkasová T, Jabandžiev P, Filipp D. Brabec T, et al. Among authors: fronkova e. Mucosal Immunol. 2023 Aug;16(4):373-385. doi: 10.1016/j.mucimm.2023.01.005. Epub 2023 Feb 3. Mucosal Immunol. 2023. PMID: 36739089 Free article.
Analysis of measurable residual disease by IG/TR gene rearrangements: quality assurance and updated EuroMRD guidelines.
van der Velden VHJ, Dombrink I, Alten J, Cazzaniga G, Clappier E, Drandi D, Eckert C, Fronkova E, Hancock J, Kotrova M, Kraemer R, Montonen M, Pfeifer H, Pott C, Raff T, Trautmann H, Cavé H, Schäfer BW, van Dongen JJM, Trka J, Brüggemann M; EuroMRD Consortium. van der Velden VHJ, et al. Among authors: fronkova e. Leukemia. 2024 Jun;38(6):1315-1322. doi: 10.1038/s41375-024-02272-0. Epub 2024 May 14. Leukemia. 2024. PMID: 38744919 Free PMC article.
Molecular Screening in Anaplastic Lymphoma Kinase-Positive Anaplastic Large Cell Lymphoma: Anaplastic Lymphoma Kinase Analysis, Next-Generation Sequencing Fusion Gene Detection, and T-Cell Receptor Immunoprofiling.
Kalinova M, Mrhalova M, Kabickova E, Svaton M, Skotnicova A, Prouzova Z, Krenova Z, Kolenova A, Divoka M, Fronkova E, Kodet R. Kalinova M, et al. Among authors: fronkova e. Mod Pathol. 2024 Mar;37(3):100428. doi: 10.1016/j.modpat.2024.100428. Epub 2024 Jan 23. Mod Pathol. 2024. PMID: 38266918 Free article.
Short Stature in a Boy with Multiple Early-Onset Autoimmune Conditions due to a STAT3 Activating Mutation: Could Intracellular Growth Hormone Signalling Be Compromised?
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Sediva H, Dusatkova P, Kanderova V, Obermannova B, Kayserova J, Sramkova L, Zemkova D, Elblova L, Svaton M, Zachova R, Kolouskova S, Fronkova E, Sumnik Z, Sediva A, Lebl J, Pruhova S. Sediva H, et al. Among authors: fronkova e. Horm Res Paediatr. 2017;88(2):160-166. doi: 10.1159/000456544. Epub 2017 Mar 2. Horm Res Paediatr. 2017. PMID: 28253502
Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects.
Schwab C, Gabrysch A, Olbrich P, Patiño V, Warnatz K, Wolff D, Hoshino A, Kobayashi M, Imai K, Takagi M, Dybedal I, Haddock JA, Sansom DM, Lucena JM, Seidl M, Schmitt-Graeff A, Reiser V, Emmerich F, Frede N, Bulashevska A, Salzer U, Schubert D, Hayakawa S, Okada S, Kanariou M, Kucuk ZY, Chapdelaine H, Petruzelkova L, Sumnik Z, Sediva A, Slatter M, Arkwright PD, Cant A, Lorenz HM, Giese T, Lougaris V, Plebani A, Price C, Sullivan KE, Moutschen M, Litzman J, Freiberger T, van de Veerdonk FL, Recher M, Albert MH, Hauck F, Seneviratne S, Pachlopnik Schmid J, Kolios A, Unglik G, Klemann C, Speckmann C, Ehl S, Leichtner A, Blumberg R, Franke A, Snapper S, Zeissig S, Cunningham-Rundles C, Giulino-Roth L, Elemento O, Dückers G, Niehues T, Fronkova E, Kanderová V, Platt CD, Chou J, Chatila TA, Geha R, McDermott E, Bunn S, Kurzai M, Schulz A, Alsina L, Casals F, Deyà-Martinez A, Hambleton S, Kanegane H, Taskén K, Neth O, Grimbacher B. Schwab C, et al. Among authors: fronkova e. J Allergy Clin Immunol. 2018 Dec;142(6):1932-1946. doi: 10.1016/j.jaci.2018.02.055. Epub 2018 May 4. J Allergy Clin Immunol. 2018. PMID: 29729943 Free PMC article.
Utility of Ruxolitinib in a Child with Chronic Mucocutaneous Candidiasis Caused by a Novel STAT1 Gain-of-Function Mutation.
Bloomfield M, Kanderová V, Paračková Z, Vrabcová P, Svatoň M, Froňková E, Fejtková M, Zachová R, Rataj M, Zentsová I, Milota T, Klocperk A, Kalina T, Šedivá A. Bloomfield M, et al. Among authors: fronkova e. J Clin Immunol. 2018 Jul;38(5):589-601. doi: 10.1007/s10875-018-0519-6. Epub 2018 Jun 22. J Clin Immunol. 2018. PMID: 29934865
A homozygous deletion in the SLC19A1 gene as a cause of folate-dependent recurrent megaloblastic anemia.
Svaton M, Skvarova Kramarzova K, Kanderova V, Mancikova A, Smisek P, Jesina P, Krijt J, Stiburkova B, Dobrovolny R, Sokolova J, Bakardjieva-Mihaylova V, Vodickova E, Rackova M, Stuchly J, Kalina T, Stary J, Trka J, Fronkova E, Kozich V. Svaton M, et al. Among authors: fronkova e. Blood. 2020 Jun 25;135(26):2427-2431. doi: 10.1182/blood.2019003178. Blood. 2020. PMID: 32276275 Free PMC article. No abstract available.
Early-onset pulmonary and cutaneous vasculitis driven by constitutively active SRC-family kinase HCK.
Kanderova V, Svobodova T, Borna S, Fejtkova M, Martinu V, Paderova J, Svaton M, Kralova J, Fronkova E, Klocperk A, Pruhova S, Lee-Kirsch MA, Hornofova L, Koblizek M, Novak P, Zimmermannova O, Parackova Z, Sediva A, Kalina T, Janda A, Kayserova J, Dvorakova M, Macek M, Pohunek P, Sedlacek P, Poh A, Ernst M, Brdicka T, Hrusak O, Lebl J. Kanderova V, et al. Among authors: fronkova e. J Allergy Clin Immunol. 2022 Apr;149(4):1464-1472.e3. doi: 10.1016/j.jaci.2021.07.046. Epub 2021 Sep 15. J Allergy Clin Immunol. 2022. PMID: 34536415
84 results