Transcriptomics

Dataset Information

0

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 -α/β (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.

INSTRUMENT(S): Illumina HiSeq 4000

ORGANISM(S): Homo sapiens  

SUBMITTER: Leo Zeef  

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

SECONDARY ACCESSION(S): ERP111363

REPOSITORIES: ArrayExpress, ENA

Similar Datasets

| GSE49525 | GEO
| GSE48313 | GEO
2017-02-15 | E-MTAB-5445 | ArrayExpress
| GSE57017 | GEO
2011-12-01 | E-GEOD-33913 | ArrayExpress
2011-01-19 | GSE25113 | GEO
2012-08-01 | E-GEOD-35696 | ArrayExpress
2011-01-19 | E-GEOD-25113 | ArrayExpress
2015-08-18 | E-GEOD-35696 | ExpressionAtlas
2010-12-03 | E-GEOD-25767 | ArrayExpress