Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

20 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
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. Among authors: kostyuchenko lv. Front Immunol. 2020 Jun 10;11:900. doi: 10.3389/fimmu.2020.00900. eCollection 2020. Front Immunol. 2020. PMID: 32655540 Free PMC article.
Genetic characteristics of eighty-seven patients with the Wiskott-Aldrich syndrome.
Gulácsy V, Freiberger T, Shcherbina A, Pac M, Chernyshova L, Avcin T, Kondratenko I, Kostyuchenko L, Prokofjeva T, Pasic S, Bernatowska E, Kutukculer N, Rascon J, Iagaru N, Mazza C, Tóth B, Erdos M, van der Burg M, Maródi L; J Project Study Group. Gulácsy V, et al. Mol Immunol. 2011 Feb;48(5):788-92. doi: 10.1016/j.molimm.2010.11.013. Epub 2010 Dec 24. Mol Immunol. 2011. PMID: 21185603
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
A Multicentre Study on the Efficacy, Safety and Pharmacokinetics of IqYmune®, a Highly Purified 10% Liquid Intravenous Immunoglobulin, in Patients with Primary Immune Deficiency.
Krivan G, Chernyshova L, Kostyuchenko L, Lange A, Nyul Z, Derfalvi B, Musial J, Bellon A, Kappler M, Sadoun A, Bernatowska E. Krivan G, et al. J Clin Immunol. 2017 Aug;37(6):539-547. doi: 10.1007/s10875-017-0416-4. Epub 2017 Jul 15. J Clin Immunol. 2017. PMID: 28711959 Free PMC article.
Heterozygous activating mutation in RAC2 causes infantile-onset combined immunodeficiency with susceptibility to viral infections.
Sharapova SO, Haapaniemi E, Sakovich IS, Kostyuchenko LV, Donkó A, Dulau-Florea A, Malko O, Bondarenko AV, Stegantseva MV, Leto TL, Uygun V, Karasu GT, Holland SM, Hsu AP, Aleinikova OV. Sharapova SO, et al. Among authors: kostyuchenko lv. Clin Immunol. 2019 Aug;205:1-5. doi: 10.1016/j.clim.2019.05.003. Epub 2019 May 7. Clin Immunol. 2019. PMID: 31071452
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. 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
Geographical Distribution, Incidence, Malignancies, and Outcome of 136 Eastern Slavic Patients With Nijmegen Breakage Syndrome and NBN Founder Variant c.657_661del5.
Sharapova SO, Pashchenko OE, Bondarenko AV, Vakhlyarskaya SS, Prokofjeva T, Fedorova AS, Savchak I, Mareika Y, Valiev TT, Popa A, Tuzankina IA, Vlasova EV, Sakovich IS, Polyakova EA, Rumiantseva NV, Naumchik IV, Kulyova SA, Aleshkevich SN, Golovataya EI, Minakovskaya NV, Belevtsev MV, Latysheva EA, Latysheva TV, Beznoshchenko AG, Akopyan H, Makukh H, Kozlova O, Varabyou DS, Ballow M, Ong MS, Walter JE, Kondratenko IV, Kostyuchenko LV, Aleinikova OV. Sharapova SO, et al. Among authors: kostyuchenko lv. Front Immunol. 2021 Jan 8;11:602482. doi: 10.3389/fimmu.2020.602482. eCollection 2020. Front Immunol. 2021. PMID: 33488600 Free PMC article. Clinical Trial.
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.
Simple Measurement of IgA Predicts Immunity and Mortality in Ataxia-Telangiectasia.
Zielen S, Duecker RP, Woelke S, Donath H, Bakhtiar S, Buecker A, Kreyenberg H, Huenecke S, Bader P, Mahlaoui N, Ehl S, El-Helou SM, Pietrucha B, Plebani A, van der Flier M, van Aerde K, Kilic SS, Reda SM, Kostyuchenko L, McDermott E, Galal N, Pignata C, Pérez JLS, Laws HJ, Niehues T, Kutukculer N, Seidel MG, Marques L, Ciznar P, Edgar JDM, Soler-Palacín P, von Bernuth H, Krueger R, Meyts I, Baumann U, Kanariou M, Grimbacher B, Hauck F, Graf D, Granado LIG, Prader S, Reisli I, Slatter M, Rodríguez-Gallego C, Arkwright PD, Bethune C, Deripapa E, Sharapova SO, Lehmberg K, Davies EG, Schuetz C, Kindle G, Schubert R. Zielen S, et al. J Clin Immunol. 2021 Nov;41(8):1878-1892. doi: 10.1007/s10875-021-01090-8. Epub 2021 Sep 3. J Clin Immunol. 2021. PMID: 34477998 Free PMC article. Clinical Trial.
20 results