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Page 1
A novel transmembrane CXCR4 variant that expands the WHIM genotype-phenotype paradigm.
Zmajkovicova K, Pawar S, Sharapova SO, Geier CB, Wiest I, Nguyen C, Monticelli H, Maier-Munsa S, Chen K, Sleasman JW, Aleshkevich S, Polyakova E, Sakovich I, Warnatz K, Grimbacher B, Proietti M, Sondheimer N, Ujhazi B, Gordon S, Ellison M, Yilmaz M, Walter JE, Badarau A, Taveras AG, Neff JL, Bledsoe JR, Tarrant TK. Zmajkovicova K, et al. Among authors: aleshkevich s. Blood Adv. 2024 Jul 23;8(14):3754-3759. doi: 10.1182/bloodadvances.2023011875. Blood Adv. 2024. PMID: 38768429 Free PMC article. No abstract available.
Disease-associated AIOLOS variants lead to immune deficiency/dysregulation by haploinsufficiency and redefine AIOLOS functional domains.
Kuehn HS, Sakovich IS, Niemela JE, Gil Silva AA, Stoddard JL, Polyakova EA, Esteve Sole A, Aleshkevich SN, Uglova TA, Belevtsev MV, Vertelko VR, Shman TV, Kupchinskaya AN, Walter JE, Fleisher TA, Notarangelo LD, Peng XP, Delmonte OM, Sharapova SO, Rosenzweig SD. Kuehn HS, et al. Among authors: aleshkevich sn. J Clin Invest. 2024 Feb 1;134(3):e172573. doi: 10.1172/JCI172573. J Clin Invest. 2024. PMID: 38015619 Free PMC article.
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.
Automated lung sound analysis using the LungPass platform: a sensitive and specific tool for identifying lower respiratory tract involvement in COVID-19.
Lapteva EA, Kharevich ON, Khatsko VV, Voronova NA, Chamko MV, Bezruchko IV, Katibnikova EI, Loban EI, Mouawie MM, Binetskaya H, Aleshkevich S, Karankevich A, Dubinetski V, Vestbo J, Mathioudakis AG. Lapteva EA, et al. Among authors: aleshkevich s. Eur Respir J. 2021 Dec 2;58(6):2101907. doi: 10.1183/13993003.01907-2021. Print 2021 Dec. Eur Respir J. 2021. PMID: 34531278 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: aleshkevich sn. 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.