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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.
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
867 results