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Chronic mucocutaneous candidiasis, pancytopenia, and systemic mycosis in a patient with STAT1 gene mutation ineffectively treated with ruxolitinib.
Bazan-Socha S, Gradzikiewicz A, Celińska-Lowenhoff M, Matyja-Bednarczyk A, Maciołek A, Bąbol-Pokora K. Bazan-Socha S, et al. Among authors: babol pokora k. Cent Eur J Immunol. 2022;47(1):92-94. doi: 10.5114/ceji.2022.114884. Epub 2022 May 10. Cent Eur J Immunol. 2022. PMID: 35600161 Free PMC article. No abstract available.
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. Front Immunol. 2020 Jun 10;11:900. doi: 10.3389/fimmu.2020.00900. eCollection 2020. Front Immunol. 2020. PMID: 32655540 Free PMC article.
Case report: Severe combined immunodeficiency with ligase 1 deficiency and Omenn-like manifestation.
Dabrowska-Leonik N, Pastorczak AK, Bąbol-Pokora K, Bernat-Sitarz K, Piątosa B, Heropolitańska-Pliszka E, Kacprzak MM, Kalwak K, Gul K, van der Burg M, Ussowicz M, Pac M. Dabrowska-Leonik N, et al. Among authors: babol pokora k. Front Immunol. 2022 Oct 19;13:1033338. doi: 10.3389/fimmu.2022.1033338. eCollection 2022. Front Immunol. 2022. PMID: 36341401 Free PMC article.
Recurrent and novel disease-causing F8 variants in boys with severe haemophilia A in Poland.
Janczar S, Babol-Pokora K, Jatczak-Pawlik I, Wypyszczak K, Klukowska A, Laguna P, Kostrzewska M, Wegner O, Zielinski J, Koltan A, Bobrowska H, Woznica-Karczmarz I, Dakowicz L, Wlazlowski M, Ruranska I, Dobaczewski G, Radwanska M, Karolczyk G, Pietrys D, Balwierz W, Szczepański T, Urasiński T, Ploski R, Mlynarski W. Janczar S, et al. Haemophilia. 2019 Jul;25(4):e311-e314. doi: 10.1111/hae.13784. Epub 2019 May 27. Haemophilia. 2019. PMID: 31134694 No abstract available.
Six molecular patterns leading to hemophilia A phenotype in 18 females from Poland.
Janczar S, Babol-Pokora K, Jatczak-Pawlik I, Taha J, Klukowska A, Laguna P, Windyga J, Odnoczko E, Zdziarska J, Iwaniec T, Koltan A, Jamrozik M, Rurańska I, Janczar K, Szczepański T, Pietrys D, Balwierz W, Treliński J, Mlynarski W. Janczar S, et al. Thromb Res. 2020 Sep;193:9-14. doi: 10.1016/j.thromres.2020.05.041. Epub 2020 May 28. Thromb Res. 2020. PMID: 32497951 Free article.
34 results