Double Trouble? CMC with a Mutation in both AIRE and STAT1
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[1] G. Driessen,et al. A Novel Heterozygous Mutation in the STAT1 SH2 Domain Causes Chronic Mucocutaneous Candidiasis, Atypically Diverse Infections, Autoimmunity, and Impaired Cytokine Regulation , 2017, Front. Immunol..
[2] R. Geha,et al. Chronic mucocutaneous candidiasis associated with an SH2 domain gain-of-function mutation that enhances STAT1 phosphorylation. , 2016, The Journal of allergy and clinical immunology.
[3] J. Casanova,et al. Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype. , 2016, Blood.
[4] W. Newman,et al. Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases. , 2015, Immunity.
[5] C. Feighery,et al. Use of ruxolitinib to successfully treat chronic mucocutaneous candidiasis caused by gain-of-function signal transducer and activator of transcription 1 (STAT1) mutation. , 2015, The Journal of allergy and clinical immunology.
[6] P. Peterson,et al. Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy: known and novel aspects of the syndrome , 2011, Annals of the New York Academy of Sciences.
[7] A. Fischer,et al. Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis , 2011, The Journal of experimental medicine.
[8] A. Hoischen,et al. STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis. , 2011, The New England journal of medicine.