DOCK8 deficiency: clinical and immunological phenotype and treatment options-a review of 136 patients SE Aydin, SS Kilic, C Aytekin, A Kumar, O Porras, L Kainulainen, ... Journal of clinical immunology 35, 189-198, 2015 | 296 | 2015 |
Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations J Thalhammer, G Kindle, A Nieters, S Rusch, MRJ Seppänen, A Fischer, ... Journal of Allergy and Clinical Immunology 148 (5), 1332-1341. e5, 2021 | 94 | 2021 |
Nijmegen breakage syndrome: clinical and immunological features, long-term outcome and treatment options–a retrospective analysis B Wolska-Kuśnierz, H Gregorek, K Chrzanowska, B Piątosa, B Pietrucha, ... Journal of clinical immunology 35, 538-549, 2015 | 93 | 2015 |
The European Society for Immunodeficiencies (ESID) registry 2014 E B. Grimbacher Clinical and Experimental Immunology 178, 18-20, 2014 | 64 | 2014 |
Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome JW Leiding, TP Vogel, VGJ Santarlas, R Mhaskar, MR Smith, A Carisey, ... Journal of allergy and clinical immunology 151 (4), 1081-1095, 2023 | 52 | 2023 |
Distinct molecular response patterns of activating STAT3 mutations associate with penetrance of lymphoproliferation and autoimmunity S Jägle, M Heeg, S Grün, A Rensing-Ehl, ME Maccari, C Klemann, ... Clinical Immunology 210, 108316, 2020 | 51 | 2020 |
Genetic characteristics of eighty-seven patients with the Wiskott–Aldrich syndrome V Gulácsy, T Freiberger, A Shcherbina, M Pac, L Chernyshova, T Avcin, ... Molecular immunology 48 (5), 788-792, 2011 | 49 | 2011 |
Heterozygous activating mutation in RAC2 causes infantile-onset combined immunodeficiency with susceptibility to viral infections SO Sharapova, E Haapaniemi, IS Sakovich, LV Kostyuchenko, A Donko, ... Clinical Immunology 205, 1-5, 2019 | 31 | 2019 |
The creation and progress of the J Project in Eastern and Central Europe L Maródi, J Project Study Group Annals of the New York Academy of Sciences 1238 (1), 65-73, 2011 | 31 | 2011 |
Geographical Distribution, Incidence, Malignancies, and Outcome of 136 Eastern Slavic Patients With Nijmegen Breakage Syndrome and NBN Founder Variant c … SO Sharapova, OE Pashchenko, AV Bondarenko, SS Vakhlyarskaya, ... Frontiers in Immunology 11, 602482, 2021 | 25 | 2021 |
Clinical immunology Nijmegen breakage syndrome in Ukraine: diagnostics and follow-up L Kostyuchenko, H Makuch, N Kitsera, R Polishchuk, N Markevych, ... Central European Journal of Immunology 34 (1), 46-52, 2009 | 25 | 2009 |
Hematopoietic stem cell transplantation positively affects the natural history of cancer in Nijmegen breakage syndrome B Wolska-Kusnierz, A Pastorczak, W Fendler, A Wakulinska, ... Clinical Cancer Research 27 (2), 575-584, 2021 | 24 | 2021 |
Molecular characteristics, clinical and immunologic manifestations of 11 children with Omenn syndrome in East Slavs (Russia, Belarus, Ukraine) SO Sharapova, IE Guryanova, OE Pashchenko, IV Kondratenko, ... Journal of clinical immunology 36, 46-55, 2016 | 24 | 2016 |
Inborn errors working party of the society for European blood and marrow transplantation and the European society for immune deficiencies. Nijmegen breakage syndrome: Clinical … B Wolska-Kuśnierz, H Gregorek, K Chrzanowska, B Piątosa, B Pietrucha, ... J Clin Immunol 35 (6), 538-549, 2015 | 16 | 2015 |
Simple measurement of IgA predicts immunity and mortality in ataxia-telangiectasia S Zielen, RP Duecker, S Woelke, H Donath, S Bakhtiar, A Buecker, ... Journal of clinical immunology 41, 1878-1892, 2021 | 15 | 2021 |
The Clinical and Genetic Spectrum of 82 Patients With RAG Deficiency Including a c.256_257delAA Founder Variant in Slavic Countries SO Sharapova, M Skomska-Pawliszak, YA Rodina, B Wolska-Kuśnierz, ... Frontiers in immunology 11, 900, 2020 | 14 | 2020 |
TREC/KREC levels in children with ataxia-telangiectasia O Boyarchuk, H Makukh, L Kostyuchenko, N Yarema, I Haiboniuk, ... Immunologic Research 69 (5), 436-444, 2021 | 12 | 2021 |
The Konya declaration for patients with primary immunodeficiencies L Maródi Journal of Clinical Immunology 40 (5), 770-773, 2020 | 12 | 2020 |
A multicentre study on the efficacy, safety and pharmacokinetics of IqYmune®, a highly purified 10% liquid intravenous immunoglobulin, in patients with primary immune deficiency G Krivan, L Chernyshova, L Kostyuchenko, A Lange, Z Nyul, B Derfalvi, ... Journal of clinical immunology 37, 539-547, 2017 | 12 | 2017 |
Епідеміологія первинних імунодефіцитів в Україні за даними реєстру пацієнтів КЛВ Чернишова Л.І., Бондаренко А.В. Здоровье ребенка, 16-23, 2015 | 12* | 2015 |