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Heterozygous activating mutation in RAC2 causes infantile-onset combined immunodeficiency with susceptibility to viral infections.
Sharapova SO, Haapaniemi E, Sakovich IS, Kostyuchenko LV, Donkó A, Dulau-Florea A, Malko O, Bondarenko AV, Stegantseva MV, Leto TL, Uygun V, Karasu GT, Holland SM, Hsu AP, Aleinikova OV. Sharapova SO, et al. Among authors: donko a. Clin Immunol. 2019 Aug;205:1-5. doi: 10.1016/j.clim.2019.05.003. Epub 2019 May 7. Clin Immunol. 2019. PMID: 31071452
Dominant activating RAC2 mutation with lymphopenia, immunodeficiency, and cytoskeletal defects.
Hsu AP, Donkó A, Arrington ME, Swamydas M, Fink D, Das A, Escobedo O, Bonagura V, Szabolcs P, Steinberg HN, Bergerson J, Skoskiewicz A, Makhija M, Davis J, Foruraghi L, Palmer C, Fuleihan RL, Church JA, Bhandoola A, Lionakis MS, Campbell S, Leto TL, Kuhns DB, Holland SM. Hsu AP, et al. Among authors: donko a. Blood. 2019 May 2;133(18):1977-1988. doi: 10.1182/blood-2018-11-886028. Epub 2019 Feb 5. Blood. 2019. PMID: 30723080 Free PMC article.
A Novel RAC2 Variant Presenting as Severe Combined Immunodeficiency.
Stern H, Donkó A, Shapiro T, Hsu AP, Leto TL, Holland SM, Andreae DA. Stern H, et al. Among authors: donko a. J Clin Immunol. 2021 Feb;41(2):473-476. doi: 10.1007/s10875-020-00915-2. Epub 2020 Nov 13. J Clin Immunol. 2021. PMID: 33188496 No abstract available.
Novel sources of reactive oxygen species in the human body.
Orient A, Donkó A, Szabó A, Leto TL, Geiszt M. Orient A, et al. Among authors: donko a. Nephrol Dial Transplant. 2007 May;22(5):1281-8. doi: 10.1093/ndt/gfm077. Epub 2007 Mar 8. Nephrol Dial Transplant. 2007. PMID: 17347280 Review. No abstract available.
30 results