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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: escobedo o. 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.