https://t.co/jQCqflMEOi "To date, 105 different mutations in STAT1 have been associated with a GOF and more are identified each year. Most STAT1 GOF patients are affected by CMC, but a wider range of phenotypes has been associated with this disease."
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3,585 followers
https://t.co/jQCqflMEOi "Less commonly, also immunodysregulation polyendocrinopathy enteropathy X-linked (IPEX)-like syndromes with CMC, and combined immunodeficiency without CMC have been described."
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https://t.co/jQCqflMEOi "STAT1 gain-of-function (GOF) is a primary immunodeficiency typically characterized by chronic mucocutaneous candidiasis (CMC), recurrent respiratory infections, and autoimmunity."
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Transcriptional Profiling of STAT1 Gain-of-Function Reveals Common and Mutation-Specific Fingerprints https://t.co/jQCqflMEOi