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Patients with STAT1 gain-of-function mutations display increased IFNα-induced T cell apoptosis and upregulation of interferon signature that are responsive to ruxolitinib treatment.

2022-07-15

Abstract excerpt

<title>Abstract</title> <p>Introduction. The signal transducer and activator of transcription (STAT1) gain of function (GOF) syndrome accounts for most cases of chronic mucocutaneous candidiasis but is characterized by a broader clinical phenotype that may include bacterial, viral, or fungal infections, autoimmunity, autoinflammatory manifestations, vascular complications, or malignancies. The spectrum of immunol...

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Literature Corpus work
ec90c886-5e8a-5f99-bda8-df601e3e67dd
DOI
10.21203/rs.3.rs-1789708/v1
Open publication

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