Hereditary Pulmonary Alveolar Proteinosis

Hereditary Pulmonary Alveolar Proteinosis Deep-Research Fallback

⚠️ Fallback MONDO:0012580

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_Proteinosis terminated with signal 15 after the timeout.
  • timeout 90s just research-disorder openai Hereditary_Pulmonary_Alveolar_Proteinosis terminated 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.