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Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome.
Woellner C, Gertz EM, Schäffer AA, Lagos M, Perro M, Glocker EO, Pietrogrande MC, Cossu F, Franco JL, Matamoros N, Pietrucha B, Heropolitańska-Pliszka E, Yeganeh M, Moin M, Español T, Ehl S, Gennery AR, Abinun M, Breborowicz A, Niehues T, Kilic SS, Junker A, Turvey SE, Plebani A, Sánchez B, Garty BZ, Pignata C, Cancrini C, Litzman J, Sanal O, Baumann U, Bacchetta R, Hsu AP, Davis JN, Hammarström L, Davies EG, Eren E, Arkwright PD, Moilanen JS, Viemann D, Khan S, Maródi L, Cant AJ, Freeman AF, Puck JM, Holland SM, Grimbacher B. Woellner C, et al. Among authors: pietrucha b. J Allergy Clin Immunol. 2010 Feb;125(2):424-432.e8. doi: 10.1016/j.jaci.2009.10.059. J Allergy Clin Immunol. 2010. PMID: 20159255 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. Among authors: pietrucha b. 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.
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. Among authors: pietrucha b. 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
Antioxidant Defense, Redox Homeostasis, and Oxidative Damage in Children With Ataxia Telangiectasia and Nijmegen Breakage Syndrome.
Maciejczyk M, Heropolitanska-Pliszka E, Pietrucha B, Sawicka-Powierza J, Bernatowska E, Wolska-Kusnierz B, Pac M, Car H, Zalewska A, Mikoluc B. Maciejczyk M, et al. Among authors: pietrucha b. Front Immunol. 2019 Sep 27;10:2322. doi: 10.3389/fimmu.2019.02322. eCollection 2019. Front Immunol. 2019. PMID: 31611883 Free PMC article.
Hematopoietic Stem Cell Transplantation Positively Affects the Natural History of Cancer in Nijmegen Breakage Syndrome.
Wolska-Kusnierz B, Pastorczak A, Fendler W, Wakulinska A, Dembowska-Baginska B, Heropolitanska-Pliszka E, Piątosa B, Pietrucha B, Kałwak K, Ussowicz M, Pieczonka A, Drabko K, Lejman M, Koltan S, Gozdzik J, Styczynski J, Fedorova A, Miakova N, Deripapa E, Kostyuchenko L, Krenova Z, Hlavackova E, Gennery AR, Sykora KW, Ghosh S, Albert MH, Balashov D, Eapen M, Svec P, Seidel MG, Kilic SS, Tomaszewska A, Wiesik-Szewczyk E, Kreins A, Greil J, Buechner J, Lund B, Gregorek H, Chrzanowska K, Mlynarski W. Wolska-Kusnierz B, et al. Among authors: pietrucha b. Clin Cancer Res. 2021 Jan 15;27(2):575-584. doi: 10.1158/1078-0432.CCR-20-2574. Epub 2020 Oct 20. Clin Cancer Res. 2021. PMID: 33082212
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.
44 results