Hereditary Pulmonary Alveolar Proteinosis Deep-Research Fallback
Initial Falcon deep-research could not run before a draft existed because
just research-disorder requires the target YAML path. After the draft was in
place, bounded provider attempts were retried:
timeout 120s just research-disorder falcon Hereditary_Pulmonary_Alveolar_Proteinosisterminated with signal 15 after the timeout.timeout 90s just research-disorder openai Hereditary_Pulmonary_Alveolar_Proteinosisterminated with signal 15 after the timeout.
No provider artifact was produced by either bounded retry. The local curation therefore used generated caches only:
- ORPHA:264675 for definition, inheritance, age of onset, epidemiology, genes, phenotype frequencies, and cross-references.
- PMID:20622029 for CSF2RA-associated hereditary PAP, GM-CSF receptor dysfunction, diagnosis, and whole-lung lavage response.
- PMID:21075760 for CSF2RB-associated hereditary PAP and autosomal recessive inheritance.
- PMID:30846703 and PMID:23001804 for PAP pathophysiology, surfactant/cholesterol clearance, imaging, diagnosis, and whole-lung lavage.
- PMID:30100408 for model-organism pulmonary macrophage transplantation evidence.
Scope Confirmation
The curation covers the ORPHA:264675/MONDO:0012580 hereditary pulmonary alveolar proteinosis concept, not autoimmune or secondary pulmonary alveolar proteinosis. The YAML consumes the structured ORPHA definition, genes, mapping, inheritance, epidemiology, age-of-onset categories, and all 15 ORPHA HPO phenotype rows. Literature-backed additions focus on GM-CSF receptor signaling, CSF2RA/CSF2RB genetics, alveolar macrophage surfactant/cholesterol clearance, PAS-positive alveolar material, HRCT crazy-paving diagnosis, whole-lung lavage, supportive respiratory care, and experimental macrophage transplantation.