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Page 1
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
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.
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.
Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome.
Leiding JW, Vogel TP, Santarlas VGJ, Mhaskar R, Smith MR, Carisey A, Vargas-Hernández A, Silva-Carmona M, Heeg M, Rensing-Ehl A, Neven B, Hadjadj J, Hambleton S, Ronan Leahy T, Meesilpavikai K, Cunningham-Rundles C, Dutmer CM, Sharapova SO, Taskinen M, Chua I, Hague R, Klemann C, Kostyuchenko L, Morio T, Thatayatikom A, Ozen A, Scherbina A, Bauer CS, Flanagan SE, Gambineri E, Giovannini-Chami L, Heimall J, Sullivan KE, Allenspach E, Romberg N, Deane SG, Prince BT, Rose MJ, Bohnsack J, Mousallem T, Jesudas R, Santos Vilela MMD, O'Sullivan M, Pachlopnik Schmid J, Průhová Š, Klocperk A, Rees M, Su H, Bahna S, Baris S, Bartnikas LM, Chang Berger A, Briggs TA, Brothers S, Bundy V, Chan AY, Chandrakasan S, Christiansen M, Cole T, Cook MC, Desai MM, Fischer U, Fulcher DA, Gallo S, Gauthier A, Gennery AR, Gonçalo Marques J, Gottrand F, Grimbacher B, Grunebaum E, Haapaniemi E, Hämäläinen S, Heiskanen K, Heiskanen-Kosma T, Hoffman HM, Gonzalez-Granado LI, Guerrerio AL, Kainulainen L, Kumar A, Lawrence MG, Levin C, Martelius T, Neth O, Olbrich P, Palma A, Patel NC, Pozos T, Preece K, Lugo Reyes SO, Russell MA, Schejter Y, Seroogy C, Sinclair J, Skevofilax E, Suan D, Suez D, Szabolcs P, Velas… See abstract for full author list ➔ Leiding JW, et al. J Allergy Clin Immunol. 2023 Apr;151(4):1081-1095. doi: 10.1016/j.jaci.2022.09.002. Epub 2022 Oct 11. J Allergy Clin Immunol. 2023. PMID: 36228738 Free PMC article.
Care of patients with inborn errors of immunity in thirty J Project countries between 2004 and 2021.
Abolhassani H, Avcin T, Bahceciler N, Balashov D, Bata Z, Bataneant M, Belevtsev M, Bernatowska E, Bidló J, Blazsó P, Boisson B, Bolkov M, Bondarenko A, Boyarchuk O, Bundschu A, Casanova JL, Chernishova L, Ciznar P, Csürke I, Erdős M, Farkas H, Fomina DS, Galal N, Goda V, Guner SN, Hauser P, Ilyina NI, Iremadze T, Iritsyan S, Ismaili-Jaha V, Jesenak M, Kelecic J, Keles S, Kindle G, Kondratenko IV, Kostyuchenko L, Kovzel E, Kriván G, Kuli-Lito G, Kumánovics G, Kurjane N, Latysheva EA, Latysheva TV, Lázár I, Markelj G, Markovic M, Maródi L, Mammadova V, Medvecz M, Miltner N, Mironska K, Modell F, Modell V, Mosdósi B, Mukhina AA, Murdjeva M, Műzes G, Nabieva U, Nasrullayeva G, Naumova E, Nagy K, Onozó B, Orozbekova B, Pac M, Pagava K, Pampura AN, Pasic S, Petrosyan M, Petrovic G, Pocek L, Prodeus AP, Reisli I, Ress K, Rezaei N, Rodina YA, Rumyantsev AG, Sciuca S, Sediva A, Serban M, Sharapova S, Shcherbina A, Sitkauskiene B, Snimshchikova I, Spahiu-Konjusha S, Szolnoky M, Szűcs G, Toplak N, Tóth B, Tsyvkina G, Tuzankina I, Vlasova E, Volokha A. Abolhassani H, et al. Front Immunol. 2022 Dec 16;13:1032358. doi: 10.3389/fimmu.2022.1032358. eCollection 2022. Front Immunol. 2022. PMID: 36605210 Free PMC article.
20 results