Definition
Heterozygous STAT1 gain-of-function (GOF) mutations lead to a broad range of clinical manifestations, including 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). STAT1 gain-of-function mutations lead to CMC through impairments in IL-17-mediated immunity.
Introduction
Signaling through the Janus kinase (JAK)–signal transducer and activator of transcription (STAT) pathway is employed by numerous cell surface receptors involved in cellular immunity and growth (O’Shea et al. 2015). The JAK family of protein kinases, of which there are four members (JAK1, JAK2, JAK3, and TYK2), associate with cytokine, colony-stimulating factor, and hormone receptors as homo- or heterodimers. Upon ligand binding, the receptor-associated...
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Biggs, C.M., Turvey, S.E. (2020). Chronic Mucocutaneous Candidiasis, STAT1 Gain of Function. In: Orange, J.S., Chinen, J. (eds) Encyclopedia of Medical Immunology. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-8678-7_62
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DOI: https://doi.org/10.1007/978-1-4614-8678-7_62
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