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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.
Variable CD18 expression in a 22-year-old female with leukocyte adhesion deficiency I: Clinical case and literature review.
Bondarenko AV, Boyarchuk OR, Sakovich IS, Polyakova EA, Migas AA, Kupchinskaya AN, Opalinska A, Reich A, Volianska L, Hilfanova AM, Lapiy FI, Chernyshova LI, Volokha AP, Zabara DV, Belevtsev MV, Shman TV, Kukharenko LV, Goltsev MV, Dubouskaya TG, Hancharou AY, Ji W, Lakhani S, Lucas CL, Aleinikova OV, Sharapova SO.
Bondarenko AV, et al. Among authors: kupchinskaya an.
Clin Case Rep. 2023 Aug 16;11(8):e7791. doi: 10.1002/ccr3.7791. eCollection 2023 Aug.
Clin Case Rep. 2023.
PMID: 37601427
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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