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SERPING1 Variants and C1-INH Biological Function: A Close Relationship With C1-INH-HAE.
Drouet C, López-Lera A, Ghannam A, López-Trascasa M, Cichon S, Ponard D, Parsopoulou F, Grombirikova H, Freiberger T, Rijavec M, Veronez CL, Pesquero JB, Germenis AE. Drouet C, et al. Among authors: freiberger t. Front Allergy. 2022 Mar 31;3:835503. doi: 10.3389/falgy.2022.835503. eCollection 2022. Front Allergy. 2022. PMID: 35958943 Free PMC article. Review.
No evidence for linkage between the hereditary angiooedema clinical phenotype and the BDKR1, BDKR2, ACE or MBL2 gene.
Freiberger T, Grombiříková H, Ravčuková B, Jarkovský J, Kuklínek P, Kryštůfková O, Hanzlíková J, Daňková E, Kopecký O, Zachová R, Lahodná M, Vašáková M, Grodecká L, Litzman J. Freiberger T, et al. Scand J Immunol. 2011 Jul;74(1):100-6. doi: 10.1111/j.1365-3083.2011.02547.x. Scand J Immunol. 2011. PMID: 21375555 Free article.
Lymphoproliferation, immunodeficiency and early-onset inflammatory bowel disease associated with a novel mutation in Caspase 8.
Kanderova V, Grombirikova H, Zentsova I, Reblova K, Klocperk A, Fejtkova M, Bloomfield M, Ravcukova B, Kalina T, Freiberger T, Sediva A. Kanderova V, et al. Among authors: freiberger t. Haematologica. 2019 Jan;104(1):e32-e34. doi: 10.3324/haematol.2018.201673. Epub 2018 Oct 18. Haematologica. 2019. PMID: 30337362 Free PMC article. No abstract available.
Bacterial but Not Fungal Gut Microbiota Alterations Are Associated With Common Variable Immunodeficiency (CVID) Phenotype.
Fiedorová K, Radvanský M, Bosák J, Grombiříková H, Němcová E, Králíčková P, Černochová M, Kotásková I, Lexa M, Litzman J, Šmajs D, Freiberger T. Fiedorová K, et al. Among authors: freiberger t. Front Immunol. 2019 Aug 13;10:1914. doi: 10.3389/fimmu.2019.01914. eCollection 2019. Front Immunol. 2019. PMID: 31456808 Free PMC article.
Novel SAMD9 Mutation in a Patient With Immunodeficiency, Neutropenia, Impaired Anti-CMV Response, and Severe Gastrointestinal Involvement.
Formankova R, Kanderova V, Rackova M, Svaton M, Brdicka T, Riha P, Keslova P, Mejstrikova E, Zaliova M, Freiberger T, Grombirikova H, Zemanova Z, Vlkova M, Fencl F, Copova I, Bronsky J, Jabandziev P, Sedlacek P, Soukalova J, Zapletal O, Stary J, Trka J, Kalina T, Skvarova Kramarzova K, Hlavackova E, Litzman J, Fronkova E. Formankova R, et al. Among authors: freiberger t. Front Immunol. 2019 Sep 18;10:2194. doi: 10.3389/fimmu.2019.02194. eCollection 2019. Front Immunol. 2019. PMID: 31620126 Free PMC article.
The Clinical and Genetic Spectrum of 82 Patients With RAG Deficiency Including a c.256_257delAA Founder Variant in Slavic Countries.
Sharapova SO, Skomska-Pawliszak M, Rodina YA, Wolska-Kuśnierz B, Dabrowska-Leonik N, Mikołuć B, Pashchenko OE, Pasic S, Freiberger T, Milota T, Formánková R, Szaflarska A, Siedlar M, Avčin T, Markelj G, Ciznar P, Kalwak K, Kołtan S, Jackowska T, Drabko K, Gagro A, Pac M, Naumova E, Kandilarova S, Babol-Pokora K, Varabyou DS, Barendregt BH, Raykina EV, Varlamova TV, Pavlova AV, Grombirikova H, Debeljak M, Mersiyanova IV, Bondarenko AV, Chernyshova LI, Kostyuchenko LV, Guseva MN, Rascon J, Muleviciene A, Preiksaitiene E, Geier CB, Leiss-Piller A, Yamazaki Y, Kawai T, Walter JE, Kondratenko IV, Šedivá A, van der Burg M, Kuzmenko NB, Notarangelo LD, Bernatowska E, Aleinikova OV. Sharapova SO, et al. Among authors: freiberger t. Front Immunol. 2020 Jun 10;11:900. doi: 10.3389/fimmu.2020.00900. eCollection 2020. Front Immunol. 2020. PMID: 32655540 Free PMC article.
176 results