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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.
Successful Salvage Haploidentical Alpha-Beta T Cell-Depleted Stem Cell Transplantation After Busulfan-Based Myeloablation in a Patient With IPEX Syndrome: A Case Report.
Martuszewski A, Paluszkiewicz P, Wawrzyniak-Dzierżek E, Drożyńska-Duklas M, Bąbol-Pokora K, Myśliwiec M, Szymczak D, Irga-Jaworska N, Młynarski W, Kałwak K, Ussowicz M. Martuszewski A, et al. Transplant Proc. 2019 Nov;51(9):3150-3154. doi: 10.1016/j.transproceed.2019.07.007. Epub 2019 Oct 11. Transplant Proc. 2019. PMID: 31611124
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
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.
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