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The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1.
Depner M, Fuchs S, Raabe J, Frede N, Glocker C, Doffinger R, Gkrania-Klotsas E, Kumararatne D, Atkinson TP, Schroeder HW Jr, Niehues T, Dückers G, Stray-Pedersen A, Baumann U, Schmidt R, Franco JL, Orrego J, Ben-Shoshan M, McCusker C, Jacob CM, Carneiro-Sampaio M, Devlin LA, Edgar JD, Henderson P, Russell RK, Skytte AB, Seneviratne SL, Wanders J, Stauss H, Meyts I, Moens L, Jesenak M, Kobbe R, Borte S, Borte M, Wright DA, Hagin D, Torgerson TR, Grimbacher B. Depner M, et al. J Clin Immunol. 2016 Jan;36(1):73-84. doi: 10.1007/s10875-015-0214-9. Epub 2015 Nov 25. J Clin Immunol. 2016. PMID: 26604104 Free PMC article.
Gain-of-function STAT1 mutations are associated with intracranial aneurysms.
Dadak M, Jacobs R, Skuljec J, Jirmo AC, Yildiz Ö, Donnerstag F, Baerlecken NT, Schmidt RE, Lanfermann H, Skripuletz T, Schwenkenbecher P, Kleinschnitz C, Tumani H, Stangel M, Pul R. Dadak M, et al. Among authors: schmidt re. Clin Immunol. 2017 May;178:79-85. doi: 10.1016/j.clim.2017.01.012. Epub 2017 Feb 2. Clin Immunol. 2017. PMID: 28161409
A Novel CARMIL2 Mutation Resulting in Combined Immunodeficiency Manifesting with Dermatitis, Fungal, and Viral Skin Infections As Well as Selective Antibody Deficiency.
Atschekzei F, Jacobs R, Wetzke M, Sogkas G, Schröder C, Ahrenstorf G, Dhingra A, Ott H, Baumann U, Schmidt RE. Atschekzei F, et al. Among authors: schmidt re. J Clin Immunol. 2019 Apr;39(3):274-276. doi: 10.1007/s10875-019-00628-1. Epub 2019 Apr 18. J Clin Immunol. 2019. PMID: 31001706 No abstract available.
868 results