Abstract
Autosomal Dominant Chronic Mucocutaneous Candidiasis (AD-CMC) is characterized by defective T cell immunity, leading to fungal infections limited to mucosal surfaces. Recently it was discovered that mutations in the coiled-coil (CC) domain of STAT1 are the cause of AD-CMC. STAT1 deficiency has been implicated in experimental models of oesophageal cancer (EC) and head and neck carcinoma (HNC). Both carcinoma types are prevalent among CMC patients. Consequently, we postulated that the same mutation in the STAT1 gene triggering AD-CMC, could also be involved in oesophageal- or head and neck carcinogenesis. However we failed to identify the c.820C>T mutation in the STAT1 CC domain in 3 cohorts of Dutch Caucasian origin: being 351 EC patients, 325 HNC patients and 309 controls. Although it seems valuable to investigate the relationship between AD-CMC and upper aerodigestive neo- plasms, the c.820C>T mutation in the STAT1 gene does not seem implicated in EC and HNC aetiology.
Highlights
Signal transducers and activators of transcription (STAT) are dormant cytoplasmic proteins that upon activation regulate a wide variety of cellular processes, such as immune regulation, apoptosis, differentiation and proliferation [1,2]
Autosomal Dominant Chronic Mucocutaneous Candidiasis (AD-chronic mucocutaneous candidiasis (CMC)) is characterized by defective T cell immunity, leading to fungal infections limited to mucosal surfaces
It was discovered that mutations in the coiled-coil (CC) domain of STAT1 are the cause of AD-CMC
Summary
Signal transducers and activators of transcription (STAT) are dormant cytoplasmic proteins that upon activation regulate a wide variety of cellular processes, such as immune regulation, apoptosis, differentiation and proliferation [1,2]. Autosomal Dominant Chronic Mucocutaneous Candidiasis (AD-CMC) is characterized by defective T cell immunity, leading to fungal infections limited to mucosal surfaces. It was discovered that mutations in the coiled-coil (CC) domain of STAT1 are the cause of AD-CMC.
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