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The coincidence of two rare diseases with opposite metabolic phenotype: a child with congenital hyperinsulinism and Bloom syndrome.
Melikyan M, Gubaeva D, Nikitina I, Ryzhkova D, Mitrofanova L, Yukhacheva D, Pershin D, Shcherbina A, Vasilyev E, Proshchina A, Krivova Y, Tiulpakov A. Melikyan M, et al. Among authors: shcherbina a. J Pediatr Endocrinol Metab. 2021 Oct 27;35(3):405-409. doi: 10.1515/jpem-2021-0464. Print 2022 Mar 28. J Pediatr Endocrinol Metab. 2021. PMID: 34700371
Overactive WASp in X-linked neutropenia leads to aberrant B-cell division and accelerated plasma cell generation.
He M, Saeed MB, Record J, Keszei M, Gonçalves Pinho L, Vasconcelos-Fontes L, D'Aulerio R, Vieira R, Oliveira MMS, Geyer C, Bohaumilitzky L, Thiemann M, Deordieva E, Buedts L, Matias Lopes JP, Pershin D, Hammarström L, Xia Y, Zhao X, Cunningham-Rundles C, Thrasher AJ, Burns SO, Cotta-de-Almeida V, Liu C, Shcherbina A, Vandenberghe P, Westerberg LS. He M, et al. Among authors: shcherbina a. J Allergy Clin Immunol. 2022 Mar;149(3):1069-1084. doi: 10.1016/j.jaci.2021.07.033. Epub 2021 Aug 9. J Allergy Clin Immunol. 2022. PMID: 34384840 Free article.
BCG Infection in Patients With Inborn Errors of Immunity Receiving the Russian BCG Strain.
Laberko A, Yukhacheva D, Kan N, Roppelt A, Mukhina A, Rodina Y, Pershin D, Cheng A, Lionakis MS, Solopova G, Kadnikova O, Mushkin A, Novichkova G, Shcherbina A. Laberko A, et al. Among authors: shcherbina a. J Allergy Clin Immunol Pract. 2022 Jul;10(7):1797-1804.e7. doi: 10.1016/j.jaip.2022.03.032. Epub 2022 Apr 22. J Allergy Clin Immunol Pract. 2022. PMID: 35470098
Novel hemizygous CORO1A variant leads to combined immunodeficiency with defective platelet calcium signaling and cell mobility.
Khoreva A, Butov KR, Nikolaeva EI, Martyanov A, Kulakovskaya E, Pershin D, Alexenko M, Kurnikova M, Abasov R, Raykina E, Abramov D, Arnaudova K, Rodina Y, Trubina N, Skvortsova Y, Balashov D, Sveshnikova A, Maschan A, Novichkova G, Panteleev M, Shcherbina A. Khoreva A, et al. Among authors: shcherbina a. J Allergy Clin Immunol Glob. 2023 Sep 27;3(1):100172. doi: 10.1016/j.jacig.2023.100172. eCollection 2024 Feb. J Allergy Clin Immunol Glob. 2023. PMID: 37915722 Free PMC article.
Newborn Screening for Severe T and B Cell Lymphopenia Using TREC/KREC Detection: A Large-Scale Pilot Study of 202,908 Newborns.
Marakhonov AV, Efimova IY, Mukhina AA, Zinchenko RA, Balinova NV, Rodina Y, Pershin D, Ryzhkova OP, Orlova AA, Zabnenkova VV, Cherevatova TB, Beskorovainaya TS, Shchagina OA, Polyakov AV, Markova ZG, Minzhenkova ME, Shilova NV, Larin SS, Khadzhieva MB, Dudina ES, Kalinina EV, Mudaeva DA, Saydaeva DH, Matulevich SA, Belyashova EY, Yakubovskiy GI, Tebieva IS, Gabisova YV, Irinina NA, Nurgalieva LR, Saifullina EV, Belyaeva TI, Romanova OS, Voronin SV, Shcherbina A, Kutsev SI. Marakhonov AV, et al. Among authors: shcherbina a. J Clin Immunol. 2024 Apr 5;44(4):93. doi: 10.1007/s10875-024-01691-z. J Clin Immunol. 2024. PMID: 38578360
Multicenter Experience of Hematopoietic Stem Cell Transplantation in WHIM Syndrome.
Laberko A, Deordieva E, Krivan G, Goda V, Bhar S, Kawahara Y, Rao K, Worth A, McDermott DH, Balashov D, Maschan A, Shcherbina A. Laberko A, et al. Among authors: shcherbina a. J Clin Immunol. 2022 Jan;42(1):171-182. doi: 10.1007/s10875-021-01155-8. Epub 2021 Oct 26. J Clin Immunol. 2022. PMID: 34697698 Free PMC article.
Four novel ELANE mutations in patients with congenital neutropenia.
Kurnikova M, Maschan M, Dinova E, Shagina I, Finogenova N, Mamedova E, Polovtseva T, Shagin D, Shcherbina A. Kurnikova M, et al. Among authors: shcherbina a. Pediatr Blood Cancer. 2011 Aug;57(2):332-5. doi: 10.1002/pbc.23104. Epub 2011 Mar 21. Pediatr Blood Cancer. 2011. PMID: 21425445
187 results