Abstract
Treatment of the autoimmune and immune-dysregulatory features of patients with STAT1 GOF or STAT3 GOF disease remains challenging. Jakinibs have been used to treat the severe immune-dysregulation in patients with either STAT1 GOF or STAT3 GOF mutations.
Publication types
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Letter
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Multicenter Study
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Research Support, N.I.H., Intramural
MeSH terms
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Adolescent
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Adult
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Child
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Female
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Gain of Function Mutation
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Humans
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Immunologic Deficiency Syndromes / drug therapy
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Immunologic Deficiency Syndromes / genetics*
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Janus Kinases / antagonists & inhibitors*
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Male
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Nitriles
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Piperidines / therapeutic use
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Protein Kinase Inhibitors / therapeutic use
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Pyrazoles / therapeutic use
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Pyrimidines / therapeutic use
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Pyrroles / therapeutic use
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STAT1 Transcription Factor / genetics*
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STAT3 Transcription Factor / genetics*
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Treatment Outcome
Substances
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Nitriles
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Piperidines
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Protein Kinase Inhibitors
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Pyrazoles
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Pyrimidines
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Pyrroles
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STAT1 Transcription Factor
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STAT1 protein, human
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STAT3 Transcription Factor
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STAT3 protein, human
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ruxolitinib
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tofacitinib
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Janus Kinases