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Year Number of Results
2006 1
2007 2
2008 1
2009 3
2010 2
2011 1
2012 1
2013 1
2015 1
2016 1
2017 4
2018 2
2019 3
2020 7
2021 4
2022 7
2023 6
2024 1

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41 results

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Page 1
Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON.
Dingemans AJM, Truijen KMG, Kim JH, Alaçam Z, Faivre L, Collins KM, Gerkes EH, van Haelst M, van de Laar IMBH, Lindstrom K, Nizon M, Pauling J, Heropolitańska-Pliszka E, Plomp AS, Racine C, Sachdev R, Sinnema M, Skranes J, Veenstra-Knol HE, Verberne EA, Vulto-van Silfhout AT, Wilsterman MEF, Ahn EE, de Vries BBA, Vissers LELM. Dingemans AJM, et al. Among authors: heropolitanska pliszka e. Eur J Hum Genet. 2022 Mar;30(3):271-281. doi: 10.1038/s41431-021-00960-4. Epub 2021 Sep 15. Eur J Hum Genet. 2022. PMID: 34521999 Free PMC article.
Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity.
Maccari ME, Wolkewitz M, Schwab C, Lorenzini T, Leiding JW, Aladjdi N, Abolhassani H, Abou-Chahla W, Aiuti A, Azarnoush S, Baris S, Barlogis V, Barzaghi F, Baumann U, Bloomfield M, Bohynikova N, Bodet D, Boutboul D, Bucciol G, Buckland MS, Burns SO, Cancrini C, Cathébras P, Cavazzana M, Cheminant M, Chinello M, Ciznar P, Coulter TI, D'Aveni M, Ekwall O, Eric Z, Eren E, Fasth A, Frange P, Fournier B, Garcia-Prat M, Gardembas M, Geier C, Ghosh S, Goda V, Hammarström L, Hauck F, Heeg M, Heropolitanska-Pliszka E, Hilfanova A, Jolles S, Karakoc-Aydiner E, Kindle GR, Kiykim A, Klemann C, Koletsi P, Koltan S, Kondratenko I, Körholz J, Krüger R, Jeziorski E, Levy R, Le Guenno G, Lefevre G, Lougaris V, Marzollo A, Mahlaoui N, Malphettes M, Meinhardt A, Merlin E, Meyts I, Milota T, Moreira F, Moshous D, Mukhina A, Neth O, Neubert J, Neven B, Nieters A, Nove-Josserand R, Oksenhendler E, Ozen A, Olbrich P, Perlat A, Pac M, Schmid JP, Pacillo L, Parra-Martinez A, Paschenko O, Pellier I, Sefer AP, Plebani A, Plantaz D, Prader S, Raffray L, Ritterbusch H, Riviere JG, Rivalta B, Rusch S, Sakovich I, Savic S, Scheible R, Schleinitz N, Schuetz C, Schulz A, Sediva A, Semeraro M, Sharapova SO,… See abstract for full author list ➔ Maccari ME, et al. Among authors: heropolitanska pliszka e. J Allergy Clin Immunol. 2023 Oct;152(4):984-996.e10. doi: 10.1016/j.jaci.2023.06.015. Epub 2023 Jun 28. J Allergy Clin Immunol. 2023. PMID: 37390899
Clinical manifestation for immunoglobulin A deficiency: a systematic review and meta-analysis.
Vosughimotlagh A, Rasouli SE, Rafiemanesh H, Safarirad M, Sharifinejad N, Madanipour A, Dos Santos Vilela MM, Heropolitańska-Pliszka E, Azizi G. Vosughimotlagh A, et al. Among authors: heropolitanska pliszka e. Allergy Asthma Clin Immunol. 2023 Aug 28;19(1):75. doi: 10.1186/s13223-023-00826-y. Allergy Asthma Clin Immunol. 2023. PMID: 37641141 Free PMC article. Review.
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.
COVID-19 in unvaccinated patients with inborn errors of immunity-polish experience.
Kołtan S, Ziętkiewicz M, Grześk E, Becht R, Berdej-Szczot E, Cienkusz M, Ewertowska M, Heropolitańska-Pliszka E, Krysiak N, Lewandowicz-Uszyńska A, Mach-Tomalska M, Matyja-Bednarczyk A, Milchert M, Napiórkowska-Baran K, Pieniawska-Śmiech K, Pituch-Noworolska A, Renke J, Roliński J, Rywczak I, Stelmach-Gołdyś A, Strach M, Suchanek H, Sulicka-Grodzicka J, Szczawińska-Popłonyk A, Tokarski S, Więsik-Szewczyk E, Wolska-Kuśnierz B, Zeman K, Pac M. Kołtan S, et al. Among authors: heropolitanska pliszka e. Front Immunol. 2022 Sep 23;13:953700. doi: 10.3389/fimmu.2022.953700. eCollection 2022. Front Immunol. 2022. PMID: 36211407 Free PMC article.
Systemic Redox Imbalance in Patients with Chronic Granulomatous Disease.
Heropolitanska-Pliszka E, Berk K, Maciejczyk M, Sawicka-Powierza J, Bernatowska E, Wolska-Kusnierz B, Pac M, Dabrowska-Leonik N, Piatosa B, Lewandowicz-Uszynska A, Karpinska J, Zalewska A, Mikoluc B. Heropolitanska-Pliszka E, et al. J Clin Med. 2020 May 9;9(5):1397. doi: 10.3390/jcm9051397. J Clin Med. 2020. PMID: 32397350 Free PMC article.
41 results