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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.
Successful Allogeneic Stem Cell Transplantation in Nuclear Factor-Kappa B Essential Modulator Deficiency Syndrome After Treosulfan-Based Conditioning: A Case Report.
Martuszewski A, Paluszkiewicz P, Sierżęga-Staykov K, Wawrzyniak-Dzierżek E, Salamonowicz-Bodzioch M, Frączkiewicz J, Janeczko-Czarnecka M, Mielcarek-Siedziuk M, Nowak M, Dąbrowska-Leonik N, Wolska-Kuśnierz B, Gul K, Bąbol-Pokora K, Młynarski W, Kałwak K, Ussowicz M. Martuszewski A, et al. Transplant Proc. 2020 Mar;52(2):647-652. doi: 10.1016/j.transproceed.2019.11.033. Epub 2020 Feb 6. Transplant Proc. 2020. PMID: 32035679
Molecular Genetics Diversity of Primary Hemophagocytic Lymphohistiocytosis among Polish Pediatric Patients.
Bąbol-Pokora K, Wołowiec M, Popko K, Jaworowska A, Bryceson YT, Tesi B, Henter JI, Młynarski W, Badowska W, Balwierz W, Drabko K, Kałwak K, Maciejka-Kembłowska L, Pieczonka A, Sobol-Milejska G, Kołtan S, Malinowska I; Polish Pediatric Hematology, Oncology Society. Bąbol-Pokora K, et al. Arch Immunol Ther Exp (Warsz). 2021 Oct 22;69(1):31. doi: 10.1007/s00005-021-00635-4. Arch Immunol Ther Exp (Warsz). 2021. PMID: 34677667 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.
Severe and fatal toxicity after hematopoietic stem cell transplantation in GNE defect-associated thrombocytopenia.
Miśkiewicz-Bujna J, Miśkiewicz-Migoń I, Panasiuk A, Kubica-Cielińska A, Zielińska M, Waszczuk Ł, Bladowska J, Miś M, Bąbol-Pokora K, Młynarski W, Ociepa T, Kałwak K, Gorczyńska E, Ussowicz M. Miśkiewicz-Bujna J, et al. Bone Marrow Transplant. 2021 Jul;56(7):1714-1716. doi: 10.1038/s41409-021-01235-8. Epub 2021 Feb 26. Bone Marrow Transplant. 2021. PMID: 33637881 No abstract available.
34 results