References
1. Eyerich, K., et al., Chronic mucocutaneous candidiasis, from bench to bedside. Eur J Dermatol, 2010. 20 (3): p. 260-5.
2. Puel, A., Human inborn errors of immunity underlying superficial or invasive candidiasis. Hum Genet, 2020.139 (6-7): p. 1011-1022.
3. Puel, A., et al., Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity. Science, 2011.332 (6025): p. 65-8.
4. Toubiana, J., et al., Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype. Blood, 2016. 127 (25): p. 3154-64.
5. Levy, R., et al., Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency. Proc Natl Acad Sci U S A, 2016. 113 (51): p. E8277-E8285.
6. Hernandez-Santos, N. and S.L. Gaffen, Th17 cells in immunity to Candida albicans. Cell Host Microbe, 2012. 11 (5): p. 425-35.
7. Ling, Y., et al., Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis. J Exp Med, 2015. 212 (5): p. 619-31.
8. McGeachy, M.J., D.J. Cua, and S.L. Gaffen, The IL-17 Family of Cytokines in Health and Disease. Immunity, 2019. 50 (4): p. 892-906.
9. Dainichi, T., et al., Immune Control by TRAF6-Mediated Pathways of Epithelial Cells in the EIME (Epithelial Immune Microenvironment).Front Immunol, 2019. 10 : p. 1107.
10. Sonder, S.U., et al., IL-17-induced NF-kappaB activation via CIKS/Act1: physiologic significance and signaling mechanisms. J Biol Chem, 2011. 286 (15): p. 12881-90.
11. Qian, Y., et al., The adaptor Act1 is required for interleukin 17-dependent signaling associated with autoimmune and inflammatory disease. Nat Immunol, 2007. 8 (3): p. 247-56.
12. Boisson, B., et al., An ACT1 mutation selectively abolishes interleukin-17 responses in humans with chronic mucocutaneous candidiasis. Immunity, 2013. 39 (4): p. 676-86.
13. Bhattad, S., et al., Chronic Mucocutaneous Candidiasis in an Adolescent Boy Due to a Novel Mutation in TRAF3IP2. J Clin Immunol, 2019. 39 (6): p. 596-599.
14. Shafer, S., et al., Two patients with chronic mucocutaneous candidiasis caused by TRAF3IP2 deficiency. J Allergy Clin Immunol, 2021.
15. Nemer, G., et al., A novel TRAF3IP2 variant causing familial scarring alopecia with mixed features of discoid lupus erythematosus and folliculitis decalvans. Clin Genet, 2020. 98 (2): p. 116-125.
16. Marujo, F., et al., A Novel TRAF3IP2 Mutation Causing Chronic Mucocutaneous Candidiasis. J Clin Immunol, 2021.
17. Zimmerman, O., et al., STAT1 Gain-of-Function Mutations Cause High Total STAT1 Levels With Normal Dephosphorylation. Front Immunol, 2019. 10 : p. 1433.
18. van de Veerdonk, F.L., et al., STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis. N Engl J Med, 2011.365 (1): p. 54-61.
19. Bai, W., et al., TRAF1 suppresses antifungal immunity through CXCL1-mediated neutrophil recruitment during Candida albicans intradermal infection. Cell Commun Signal, 2020. 18 (1): p. 30.