| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Pulmonary Fibrosis_Interstitial Lung Disease v2.5 | STAT2 | Zornitza Stark Marked gene: STAT2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Fibrosis_Interstitial Lung Disease v2.5 | STAT2 | Zornitza Stark Gene: stat2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Fibrosis_Interstitial Lung Disease v2.5 | STAT2 | Zornitza Stark Classified gene: STAT2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Fibrosis_Interstitial Lung Disease v2.5 | STAT2 | Zornitza Stark Gene: stat2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Fibrosis_Interstitial Lung Disease v2.4 | STAT2 |
Zornitza Stark gene: STAT2 was added gene: STAT2 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Literature Mode of inheritance for gene: STAT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STAT2 were set to 42461263 Phenotypes for gene: STAT2 were set to Inborn error of immunity, MONDO:0003778, STAT2-related Review for gene: STAT2 was set to AMBER Added comment: Variants in this gene are associated with immune system disorders, particularly causing auto inflammation. Report of 3 siblings presenting with early-onset, life-threatening pulmonary alveolar proteinosis (PAP) and autoinflammation; novel homozygous variant (R223Q) in STAT2 identified. R223Q STAT2 preserved signal transduction and viral control in vitro. However, cells homozygous for the R223Q variant failed to terminate IFN-I responses, owing to impaired localization of USP18. GM-CSF signaling remained intact. Instead, persistent IFN-I signaling antagonized monocyte migration toward chemokines essential for lung trafficking. The youngest sibling received JAK inhibitor and anti-IFN-I receptor therapy with marked clinical improvement. Sources: Literature |
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