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Severe type 1 interferonopathy due to germline STAT2 gain-of-function


ABSTRACT: The transcription factor STAT2 is essential for transcriptional activation downstream of the receptors for the innate IFNs -?/? (IFNAR) and -gamma (IFNLR). STAT2 is activated by tyrosine phosphorylation, associating with STAT1 and IRF9 to form the Interferon-Stimulated Gene Factor 3 (ISGF3) to effect gene transcription. Loss-of-function variants in STAT2 increase susceptibility to viral disease. Here a transcriptome study is reported on an individual with severe early-onset neuroinflammatory disease and an elevated IFN signature. The individual had a homozygous missense variant in STAT2 and symptoms consistent with a gain-of-function effect.

SUBMITTER: Leo Zeef 

PROVIDER: E-MTAB-7275 | BioStudies | 2019-11-06

SECONDARY ACCESSION(S): ERP111363

REPOSITORIES: biostudies

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