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Clinical Course and Family History of Adult Patient with Novel MYSM1 Variant.
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.
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.
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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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