Aicardi-Goutieres Syndrome Deep Research Fallback
Provider Attempts
timeout 120 just research-disorder falcon Aicardi_Goutieres_Syndrometimed out and was terminated bytimeoutwith exit code 124.timeout 120 just research-disorder openai Aicardi_Goutieres_Syndrometimed out and was terminated bytimeoutwith exit code 124.
Evidence Scope Integrated
The curation proceeded from generated ORPHA:51 structured data and targeted
PubMed evidence cached with just fetch-reference. The YAML integrates:
- ORPHA:51 disease identity, MONDO exact mapping, autosomal dominant/recessive inheritance, current AGS genes, onset categories, and HPO frequency rows.
- GeneReviews PMID:20301648 for clinical characteristics, diagnosis/testing, genetic counseling, supportive management, and surveillance.
- Discovery and cohort papers for TREX1, RNASEH2A/B/C, SAMHD1, ADAR, IFIH1, LSM11, and RNU7-1 mechanisms: PMID:16845398, PMID:16845400, PMID:17846997, PMID:25604658, PMID:31130681, PMID:31559893, PMID:33230297, and PMID:35320431.
- Human treatment evidence for JAK inhibition and reverse-transcriptase inhibitor trials: PMID:32877590, PMID:30666809, PMID:33721182, PMID:30566312, PMID:39630935, and the clinical-spectrum treatment review PMID:36650407.
Curation Notes
No provider-generated deep-research narrative was available within the bounded runtime. The YAML therefore uses only exact snippets from ORPHA/PubMed reference caches and avoids unsupported treatment claims. JAK inhibition is represented as emerging mechanism-targeted therapy with human open-label/case evidence, while reverse-transcriptase inhibition is represented as investigational with mixed trial evidence.