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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. 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.
Chronic mucocutaneous candidiasis, from bench to bedside.
Eyerich K, Eyerich S, Hiller J, Behrendt H, Traidl-Hoffmann C. Eyerich K, et al. Eur J Dermatol. 2010 May-Jun;20(3):260-5. doi: 10.1684/ejd.2010.0910. Epub 2010 Feb 5. Eur J Dermatol. 2010. PMID: 20133219 Review.
[Mucocutaneous candidiasis].
Traidl-Hoffmann C, Eyerich K, Maier E, Behrendt H, Ring J, Hofmann H. Traidl-Hoffmann C, et al. Dtsch Med Wochenschr. 2010 Jul;135(27):1379-88; quiz 1389-92. doi: 10.1055/s-0030-1262423. Epub 2010 Jun 29. Dtsch Med Wochenschr. 2010. PMID: 20589586 German.
Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis.
Liu L, Okada S, Kong XF, Kreins AY, Cypowyj S, Abhyankar A, Toubiana J, Itan Y, Audry M, Nitschke P, Masson C, Toth B, Flatot J, Migaud M, Chrabieh M, Kochetkov T, Bolze A, Borghesi A, Toulon A, Hiller J, Eyerich S, Eyerich K, Gulácsy V, Chernyshova L, Chernyshov V, Bondarenko A, Grimaldo RM, Blancas-Galicia L, Beas IM, Roesler J, Magdorf K, Engelhard D, Thumerelle C, Burgel PR, Hoernes M, Drexel B, Seger R, Kusuma T, Jansson AF, Sawalle-Belohradsky J, Belohradsky B, Jouanguy E, Bustamante J, Bué M, Karin N, Wildbaum G, Bodemer C, Lortholary O, Fischer A, Blanche S, Al-Muhsen S, Reichenbach J, Kobayashi M, Rosales FE, Lozano CT, Kilic SS, Oleastro M, Etzioni A, Traidl-Hoffmann C, Renner ED, Abel L, Picard C, Maródi L, Boisson-Dupuis S, Puel A, Casanova JL. Liu L, et al. J Exp Med. 2011 Aug 1;208(8):1635-48. doi: 10.1084/jem.20110958. Epub 2011 Jul 4. J Exp Med. 2011. PMID: 21727188 Free PMC article.
Differential in situ expression of IL-17 in skin diseases.
Fischer-Stabauer M, Boehner A, Eyerich S, Carbone T, Traidl-Hoffmann C, Schmidt-Weber CB, Cavani A, Ring J, Hein R, Eyerich K. Fischer-Stabauer M, et al. Eur J Dermatol. 2012 Nov-Dec;22(6):781-4. doi: 10.1684/ejd.2012.1854. Eur J Dermatol. 2012. PMID: 23211678
243 results