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STAT1 hyperphosphorylation and defective IL12R/IL23R signaling underlie defective immunity in autosomal dominant chronic mucocutaneous candidiasis.
Smeekens SP, Plantinga TS, van de Veerdonk FL, Heinhuis B, Hoischen A, Joosten LA, Arkwright PD, Gennery A, Kullberg BJ, Veltman JA, Lilic D, van der Meer JW, Netea MG. Smeekens SP, et al. Among authors: arkwright pd. PLoS One. 2011;6(12):e29248. doi: 10.1371/journal.pone.0029248. Epub 2011 Dec 14. PLoS One. 2011. PMID: 22195034 Free PMC article.
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.
Pattern recognition receptor expression is not impaired in patients with chronic mucocutanous candidiasis with or without autoimmune polyendocrinopathy candidiasis ectodermal dystrophy.
Hong M, Ryan KR, Arkwright PD, Gennery AR, Costigan C, Dominguez M, Denning DW, McConnell V, Cant AJ, Abinun M, Spickett GP, Swan DC, Gillespie CS, Young DA, Lilic D. Hong M, et al. Among authors: arkwright pd. Clin Exp Immunol. 2009 Apr;156(1):40-51. doi: 10.1111/j.1365-2249.2009.03873.x. Epub 2009 Jan 22. Clin Exp Immunol. 2009. PMID: 19196253 Free PMC article.
Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I.
Puel A, Döffinger R, Natividad A, Chrabieh M, Barcenas-Morales G, Picard C, Cobat A, Ouachée-Chardin M, Toulon A, Bustamante J, Al-Muhsen S, Al-Owain M, Arkwright PD, Costigan C, McConnell V, Cant AJ, Abinun M, Polak M, Bougnères PF, Kumararatne D, Marodi L, Nahum A, Roifman C, Blanche S, Fischer A, Bodemer C, Abel L, Lilic D, Casanova JL. Puel A, et al. Among authors: arkwright pd. J Exp Med. 2010 Feb 15;207(2):291-7. doi: 10.1084/jem.20091983. Epub 2010 Feb 1. J Exp Med. 2010. PMID: 20123958 Free PMC article.
Autoantibodies against type I interferons as an additional diagnostic criterion for autoimmune polyendocrine syndrome type I.
Meloni A, Furcas M, Cetani F, Marcocci C, Falorni A, Perniola R, Pura M, Bøe Wolff AS, Husebye ES, Lilic D, Ryan KR, Gennery AR, Cant AJ, Abinun M, Spickett GP, Arkwright PD, Denning D, Costigan C, Dominguez M, McConnell V, Willcox N, Meager A. Meloni A, et al. Among authors: arkwright pd. J Clin Endocrinol Metab. 2008 Nov;93(11):4389-97. doi: 10.1210/jc.2008-0935. Epub 2008 Aug 26. J Clin Endocrinol Metab. 2008. PMID: 18728167
213 results