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2. Two novel gain-of-function mutations of STAT1 responsible for chronic mucocutaneous candidiasis disease: impaired production of IL-17A and IL-22, and the presence of anti-IL-17F autoantibody. Yamazaki Y; Yamada M; Kawai T; Morio T; Onodera M; Ueki M; Watanabe N; Takada H; Takezaki S; Chida N; Kobayashi I; Ariga T J Immunol; 2014 Nov; 193(10):4880-7. PubMed ID: 25288569 [TBL] [Abstract][Full Text] [Related]
3. Chronic mucocutaneous candidiasis due to gain-of-function mutation in STAT1. Carey B; Lambourne J; Porter S; Hodgson T Oral Dis; 2019 Apr; 25(3):684-692. PubMed ID: 29702748 [TBL] [Abstract][Full Text] [Related]
4. A novel gain-of-function STAT1 mutation resulting in basal phosphorylation of STAT1 and increased distal IFN-γ-mediated responses in chronic mucocutaneous candidiasis. Martinez-Martinez L; Martinez-Saavedra MT; Fuentes-Prior P; Barnadas M; Rubiales MV; Noda J; Badell I; Rodríguez-Gallego C; de la Calle-Martin O Mol Immunol; 2015 Dec; 68(2 Pt C):597-605. PubMed ID: 26514428 [TBL] [Abstract][Full Text] [Related]
5. [Chronic mucocutaneous candidiasis with STAT1 gain-of-function mutation associated with herpes virus and mycobacterial infections]. Baghad B; Benhsaien I; El Fatoiki FZ; Migaud M; Puel A; Chiheb S; Bousfiha AA; Ailal F Ann Dermatol Venereol; 2020 Jan; 147(1):41-45. PubMed ID: 31677808 [TBL] [Abstract][Full Text] [Related]
6. A gain-of-function mutation of STAT1: A novel genetic factor contributing to chronic mucocutaneous candidiasis. Eslami N; Tavakol M; Mesdaghi M; Gharegozlou M; Casanova JL; Puel A; Okada S; Arshi S; Bemanian MH; Fallahpour M; Molatefi R; Seif F; Zoghi S; Rezaei N; Nabavi M Acta Microbiol Immunol Hung; 2017 Jun; 64(2):191-201. PubMed ID: 28597685 [TBL] [Abstract][Full Text] [Related]
7. Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis. Mizoguchi Y; Tsumura M; Okada S; Hirata O; Minegishi S; Imai K; Hyakuna N; Muramatsu H; Kojima S; Ozaki Y; Imai T; Takeda S; Okazaki T; Ito T; Yasunaga S; Takihara Y; Bryant VL; Kong XF; Cypowyj S; Boisson-Dupuis S; Puel A; Casanova JL; Morio T; Kobayashi M J Leukoc Biol; 2014 Apr; 95(4):667-76. PubMed ID: 24343863 [TBL] [Abstract][Full Text] [Related]
8. Human STAT1 Gain-of-Function Heterozygous Mutations: Chronic Mucocutaneous Candidiasis and Type I Interferonopathy. Okada S; Asano T; Moriya K; Boisson-Dupuis S; Kobayashi M; Casanova JL; Puel A J Clin Immunol; 2020 Nov; 40(8):1065-1081. PubMed ID: 32852681 [TBL] [Abstract][Full Text] [Related]
9. Treatment options for chronic mucocutaneous candidiasis. van de Veerdonk FL; Netea MG J Infect; 2016 Jul; 72 Suppl():S56-60. PubMed ID: 27161991 [TBL] [Abstract][Full Text] [Related]
10. Utility of Ruxolitinib in a Child with Chronic Mucocutaneous Candidiasis Caused by a Novel STAT1 Gain-of-Function Mutation. Bloomfield M; Kanderová V; Paračková Z; Vrabcová P; Svatoň M; Froňková E; Fejtková M; Zachová R; Rataj M; Zentsová I; Milota T; Klocperk A; Kalina T; Šedivá A J Clin Immunol; 2018 Jul; 38(5):589-601. PubMed ID: 29934865 [TBL] [Abstract][Full Text] [Related]
11. Patients with STAT1 Gain-of-function Mutations Display Increased Apoptosis which is Reversed by the JAK Inhibitor Ruxolitinib. Dotta L; Todaro F; Baronio M; Giacomelli M; Pinelli M; Giambarda M; Brognoli B; Greco S; Rota F; Cortesi M; Soresina A; Moratto D; Tomasi C; Ferraro RM; Giliani S; Badolato R J Clin Immunol; 2024 Apr; 44(4):85. PubMed ID: 38578354 [TBL] [Abstract][Full Text] [Related]
18. Primary immunodeficiency and chronic mucocutaneous candidiasis: pathophysiological, diagnostic, and therapeutic approaches. Egri N; Esteve-Solé A; Deyà-Martínez À; Ortiz de Landazuri I; Vlagea A; García AP; Cardozo C; Garcia-Vidal C; Bartolomé CS; Español-Rego M; Yiyi L; Bosch-Amate X; Ferrando J; Yagüe J; Juan M; Alsina L Allergol Immunopathol (Madr); 2021; 49(1):118-127. PubMed ID: 33528939 [TBL] [Abstract][Full Text] [Related]
19. New and recurrent STAT1 mutations in seven Chinese patients with chronic mucocutaneous candidiasis. Wang X; Zhang R; Wu W; Wang A; Wan Z; van de Veerdonk FL; Li R Int J Dermatol; 2017 Feb; 56(2):e30-e33. PubMed ID: 27808400 [No Abstract] [Full Text] [Related]
20. Autosomal dominant cases of chronic mucocutaneous candidiasis segregates with mutations of signal transducer and activator of transcription 1, but not of Toll-like receptor 3. Al Rushood M; McCusker C; Mazer B; Alizadehfar R; Grimbacher B; Depner M; Ben-Shoshan M J Pediatr; 2013 Jul; 163(1):277-9. PubMed ID: 23541088 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]