candidiasis familial type 7

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candidiasis familial type 7

An autosomal dominant disorder (OMIM:614162) characterised by altered immune responses and impaired clearance of Candida.

Clinical findings
Persistent and/or recurrent infections of skin, nails and mucous membranes caused by Candida species, primarily C albicans.

Immunology
Reduced production of IFN-alpha, IL-17, and IL-22.

Molecular pathology
Caused by defects of STAT1, which encodes a STAT family transcription factor that is activated by IFN-alpha, IFN-gamma, EGF, PDGF and IL6.
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