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Disease-associated AIOLOS variants lead to immune deficiency/dysregulation by haploinsufficiency and redefine AIOLOS functional domains.
J Clin Invest. 2024 Feb 1;134(3):e172573. doi: 10.1172/JCI172573.
J Clin Invest. 2024.
PMID: 38015619
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.
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Late-onset combined immune deficiency associated to skin granuloma due to heterozygous compound mutations in RAG1 gene in a 14 years old male.
Sharapova SO, Migas A, Guryanova I, Aleshkevich S, Kletski S, Durandy A, Belevtsev M.
Sharapova SO, et al.
Hum Immunol. 2013 Jan;74(1):18-22. doi: 10.1016/j.humimm.2012.10.010. Epub 2012 Oct 17.
Hum Immunol. 2013.
PMID: 23085344
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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.
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Clinical Course and Family History of Adult Patient with Novel MYSM1 Variant.
Sakovich IS, Haapaniemi E; PID_team_Belarus; Saarela J, Sharapova SO.
Sakovich IS, et al.
J Clin Immunol. 2023 Dec 22;44(1):9. doi: 10.1007/s10875-023-01609-1.
J Clin Immunol. 2023.
PMID: 38129711
No abstract available.
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