Utility of Ruxolitinib in a Child with Chronic Mucocutaneous Candidiasis Caused by a Novel STAT1 Gain-of-Function Mutation

Liu L(2011)Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis J Exp Med 208 1635-1648

Okada S(2012)Inborn errors of human IL-17 immunity underlie chronic mucocutaneous candidiasis Curr Opin Allergy Clin Immunol 12 616-622

Kong X-F(2016)Chronic mucocutaneous candidiasis disease associated with inborn errors of IL-17 immunity Clin Transl Immunol 5 e114-378

Kreins AY(2012)Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes Curr Opin Immunol 24 364-3164

Cypowyj S(2016)Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype Blood 127 3154-1006e1

Abhyankar A(2015)Monogenic mutations differentially affect the quantity and quality of T follicular helper cells in patients with human primary immunodeficiencies J Allergy Clin Immunol 136 993-648

Toubiana J(2016)Severe early-onset combined immunodeficiency due to heterozygous gain-of-function mutations in STAT1 J Clin Immunol 36 641-1640.e2

Itan Y(2017)Ruxolitinib reverses dysregulated T helper cell responses and controls autoimmunity caused by a novel signal transducer and activator of transcription 1 (STAT1) gain-of-function mutation J Allergy Clin Immunol 139 1629-1027

Audry M(2012)Molecular mechanisms of mucocutaneous immunity against Candida and Staphylococcus species J Allergy Clin Immunol 130 1019-2846

Nitschke P(2015)Gain-of-function STAT1 mutations impair STAT3 activity in patients with chronic mucocutaneous candidiasis (CMC) Eur J Immunol 45 2834-235

Liu L(2011)Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis J Exp Med 208 1635-1648

Okada S(2012)Inborn errors of human IL-17 immunity underlie chronic mucocutaneous candidiasis Curr Opin Allergy Clin Immunol 12 616-622

Kong X-F(2016)Chronic mucocutaneous candidiasis disease associated with inborn errors of IL-17 immunity Clin Transl Immunol 5 e114-378

Kreins AY(2012)Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes Curr Opin Immunol 24 364-3164

Cypowyj S(2016)Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype Blood 127 3154-1006e1

Abhyankar A(2015)Monogenic mutations differentially affect the quantity and quality of T follicular helper cells in patients with human primary immunodeficiencies J Allergy Clin Immunol 136 993-648

Toubiana J(2016)Severe early-onset combined immunodeficiency due to heterozygous gain-of-function mutations in STAT1 J Clin Immunol 36 641-1640.e2

Itan Y(2017)Ruxolitinib reverses dysregulated T helper cell responses and controls autoimmunity caused by a novel signal transducer and activator of transcription 1 (STAT1) gain-of-function mutation J Allergy Clin Immunol 139 1629-1027

Audry M(2012)Molecular mechanisms of mucocutaneous immunity against Candida and Staphylococcus species J Allergy Clin Immunol 130 1019-2846

Nitschke P(2015)Gain-of-function STAT1 mutations impair STAT3 activity in patients with chronic mucocutaneous candidiasis (CMC) Eur J Immunol 45 2834-235