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Double Trouble? CMC with a Mutation in both AIRE and STAT1.
Al Dhanhani H, Al Shehri T, Lilic D, Buddles M, Kisand K, Maccari ME, Leahy TR. Al Dhanhani H, et al. Among authors: kisand k. J Clin Immunol. 2018 Aug;38(6):635-637. doi: 10.1007/s10875-018-0536-5. Epub 2018 Jul 27. J Clin Immunol. 2018. PMID: 30054782 No abstract available.
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.
Toubiana J, Okada S, Hiller J, Oleastro M, Lagos Gomez M, Aldave Becerra JC, Ouachée-Chardin M, Fouyssac F, Girisha KM, Etzioni A, Van Montfrans J, Camcioglu Y, Kerns LA, Belohradsky B, Blanche S, Bousfiha A, Rodriguez-Gallego C, Meyts I, Kisand K, Reichenbach J, Renner ED, Rosenzweig S, Grimbacher B, van de Veerdonk FL, Traidl-Hoffmann C, Picard C, Marodi L, Morio T, Kobayashi M, Lilic D, Milner JD, Holland S, Casanova JL, Puel A; International STAT1 Gain-of-Function Study Group. Toubiana J, et al. Among authors: kisand k. Blood. 2016 Jun 23;127(25):3154-64. doi: 10.1182/blood-2015-11-679902. Epub 2016 Apr 25. Blood. 2016. PMID: 27114460 Free PMC article.
Aortic Calcification in a Patient with a Gain-of-Function STAT1 Mutation.
Smyth AE, Kaleviste E, Snow A, Kisand K, McMahon CJ, Cant AJ, Leahy TR. Smyth AE, et al. Among authors: kisand k. J Clin Immunol. 2018 May;38(4):468-470. doi: 10.1007/s10875-018-0513-z. Epub 2018 May 26. J Clin Immunol. 2018. PMID: 29804236 No abstract available.
172 results