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Gain-of-Function Mutations in STAT1: A Recently Defined Cause for Chronic Mucocutaneous Candidiasis Disease Mimicking Combined Immunodeficiencies.
Eren Akarcan S, Ulusoy Severcan E, Edeer Karaca N, Isik E, Aksu G, Migaud M, Evin Gurkan F, Azarsiz E, Puel A, Casanova JL, Kutukculer N. Eren Akarcan S, et al. Among authors: edeer karaca n. Case Reports Immunol. 2017;2017:2846928. doi: 10.1155/2017/2846928. Epub 2017 Nov 13. Case Reports Immunol. 2017. PMID: 29259832 Free PMC article.
Two male siblings with a novel LRBA mutation presenting with different findings of IPEX syndrome.
Eren Akarcan S, Edeer Karaca N, Aksu G, Aykut A, Yilmaz Karapinar D, Cetin F, Aydinok Y, Azarsiz E, Gambineri E, Cogulu O, Ulusoy Severcan E, Alper H, Kutukculer N. Eren Akarcan S, et al. Among authors: edeer karaca n. JMM Case Rep. 2018 Oct 15;5(10):e005167. doi: 10.1099/jmmcr.0.005167. eCollection 2018 Oct. JMM Case Rep. 2018. PMID: 30479781 Free PMC article.
24 results