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Page 1
Periodic fever syndromes in Eastern and Central European countries: results of a pediatric multinational survey.
Toplak N, Dolezalovà P, Constantin T, Sedivà A, Pašić S, Cižnar P, Wolska-Kuśnierz B, Harjaček M, Stefan M, Ruperto N, Gattorno M, Avčin T; Eastern/Central European autoinflammatory collaborating group for the Paediatric Rheumatology International Trials Organization (PRINTO) and Eurofever Project. Toplak N, et al. Pediatr Rheumatol Online J. 2010 Dec 2;8:29. doi: 10.1186/1546-0096-8-29. Pediatr Rheumatol Online J. 2010. PMID: 21539753 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. Front Immunol. 2020 Jun 10;11:900. doi: 10.3389/fimmu.2020.00900. eCollection 2020. Front Immunol. 2020. PMID: 32655540 Free PMC article.
INSAID Variant Classification and Eurofever Criteria Guide Optimal Treatment Strategy in Patients with TRAPS: Data from the Eurofever Registry.
Papa R, Lane T, Minden K, Touitou I, Cantarini L, Cattalini M, Obici L, Jansson AF, Belot A, Frenkel J, Anton J, Wolska-Kusnierz B, Berendes R, Remesal A, Jelusic M, Hoppenreijs E, Espada G, Nikishina I, Maggio MC, Bovis F, Masini M, Youngstein T, Rezk T, Papadopoulou C, Brogan PA, Hawkins PN, Woo P, Ruperto N, Gattorno M, Lachmann HJ; Pediatric Rheumatology International Trials Organization (PRINTO), the EUROTRAPS, and the Eurofever Project. Papa R, et al. J Allergy Clin Immunol Pract. 2021 Feb;9(2):783-791.e4. doi: 10.1016/j.jaip.2020.10.053. Epub 2020 Nov 9. J Allergy Clin Immunol Pract. 2021. PMID: 33181346
Nijmegen Breakage Syndrome: Clinical and Immunological Features, Long-Term Outcome and Treatment Options - a Retrospective Analysis.
Wolska-Kuśnierz B, Gregorek H, Chrzanowska K, Piątosa B, Pietrucha B, Heropolitańska-Pliszka E, Pac M, Klaudel-Dreszler M, Kostyuchenko L, Pasic S, Marodi L, Belohradsky BH, Čižnár P, Shcherbina A, Kilic SS, Baumann U, Seidel MG, Gennery AR, Syczewska M, Mikołuć B, Kałwak K, Styczyński J, Pieczonka A, Drabko K, Wakulińska A, Gathmann B, Albert MH, Skarżyńska U, Bernatowska E; Inborn Errors Working Party of the Society for European Blood and Marrow Transplantation and the European Society for Immune Deficiencies. Wolska-Kuśnierz B, et al. J Clin Immunol. 2015 Aug;35(6):538-49. doi: 10.1007/s10875-015-0186-9. Epub 2015 Aug 14. J Clin Immunol. 2015. PMID: 26271390
Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations.
Thalhammer J, Kindle G, Nieters A, Rusch S, Seppänen MRJ, Fischer A, Grimbacher B, Edgar D, Buckland M, Mahlaoui N, Ehl S; European Society for Immunodeficiencies Registry Working Party. Thalhammer J, et al. J Allergy Clin Immunol. 2021 Nov;148(5):1332-1341.e5. doi: 10.1016/j.jaci.2021.04.015. Epub 2021 Apr 23. J Allergy Clin Immunol. 2021. PMID: 33895260 Free article.
EuroFlow Standardized Approach to Diagnostic Immunopheneotyping of Severe PID in Newborns and Young Children.
Kalina T, Bakardjieva M, Blom M, Perez-Andres M, Barendregt B, Kanderová V, Bonroy C, Philippé J, Blanco E, Pico-Knijnenburg I, Paping JHMP, Wolska-Kuśnierz B, Pac M, Tkazcyk J, Haerynck F, Akar HH, Formánková R, Freiberger T, Svatoň M, Šedivá A, Arriba-Méndez S, Orfao A, van Dongen JJM, van der Burg M. Kalina T, et al. Front Immunol. 2020 Mar 19;11:371. doi: 10.3389/fimmu.2020.00371. eCollection 2020. Front Immunol. 2020. PMID: 32265901 Free PMC article.
Outcome of hematopoietic cell transplantation for DNA double-strand break repair disorders.
Slack J, Albert MH, Balashov D, Belohradsky BH, Bertaina A, Bleesing J, Booth C, Buechner J, Buckley RH, Ouachée-Chardin M, Deripapa E, Drabko K, Eapen M, Feuchtinger T, Finocchi A, Gaspar HB, Ghosh S, Gillio A, Gonzalez-Granado LI, Grunebaum E, Güngör T, Heilmann C, Helminen M, Higuchi K, Imai K, Kalwak K, Kanazawa N, Karasu G, Kucuk ZY, Laberko A, Lange A, Mahlaoui N, Meisel R, Moshous D, Muramatsu H, Parikh S, Pasic S, Schmid I, Schuetz C, Schulz A, Schultz KR, Shaw PJ, Slatter MA, Sykora KW, Tamura S, Taskinen M, Wawer A, Wolska-Kuśnierz B, Cowan MJ, Fischer A, Gennery AR; Inborn Errors Working Party of the European Society for Blood and Marrow Transplantation and the European Society for Immunodeficiencies; Stem Cell Transplant for Immunodeficiencies in Europe (SCETIDE); Center for International Blood and Marrow Transplant Research; Primary Immunodeficiency Treatment Consortium. Slack J, et al. J Allergy Clin Immunol. 2018 Jan;141(1):322-328.e10. doi: 10.1016/j.jaci.2017.02.036. Epub 2017 Apr 7. J Allergy Clin Immunol. 2018. PMID: 28392333 Free PMC article.
Common variable immune deficiency in children--clinical characteristics varies depending on defect in peripheral B cell maturation.
Piątosa B, Pac M, Siewiera K, Pietrucha B, Klaudel-Dreszler M, Heropolitańska-Pliszka E, Wolska-Kuśnierz B, Dmeńska H, Gregorek H, Sokolnicka I, Rękawek A, Tkaczyk K, Bernatowska E. Piątosa B, et al. J Clin Immunol. 2013 May;33(4):731-41. doi: 10.1007/s10875-013-9875-4. Epub 2013 Feb 7. J Clin Immunol. 2013. PMID: 23389235 Free PMC article.
51 results