Chronic Mucocutaneous Candidiasis, ACT1 Deficiency
Nuclear factor-kappa-B activator 1 (ACT1) deficiency is an autosomal recessive disorder that leads to chronic mucocutaneous candidiasis (CMC). CMC is defined as recurrent or persistent mucocutaneous infections caused by fungi of the genus Candida, and primarily by the commensal organism Candida albicans (Kirkpatrick 2001; Puel et al. 2012). ACT1 deficiency leads to CMC through impairments in IL-17-mediated immunity.
ACT1 was first identified in 2000 as an activating protein of NF-kappa B (NF-κB) and Jun Kinase (Awane et al. 1999; Li et al. 2000; Leonardi et al. 2000). NF-κB is a key transcription factor involved in cellular inflammatory, survival, and stress responses (Li et al. 2000; Baeuerle and Baltimore 1996). NF-κB remains latent in the cytoplasm bound to a group of inhibitor proteins that are collectively called the IκB...
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