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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. Among authors: doffinger r. 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.
Genetically determined susceptibility to mycobacterial infection.
Patel SY, Doffinger R, Barcenas-Morales G, Kumararatne DS. Patel SY, et al. Among authors: doffinger r. J Clin Pathol. 2008 Sep;61(9):1006-12. doi: 10.1136/jcp.2007.051201. Epub 2008 Mar 6. J Clin Pathol. 2008. PMID: 18326015 Review.
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: doffinger r. 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.
Specific antibody deficiency in children with chronic wet cough.
Lim MT, Jeyarajah K, Jones P, Pandya H, Doffinger R, Kumararatne D, Browning MJ, Gaillard EA. Lim MT, et al. Among authors: doffinger r. Arch Dis Child. 2012 May;97(5):478-80. doi: 10.1136/archdischild-2011-300691. Epub 2012 Jan 30. Arch Dis Child. 2012. PMID: 22294669
138 results