Version May 2024
| Disorder | Examples and/or mechanism(s) |
| Congenital PAP | Genetic mechanisms other than GM-CSF signaling |
| Disorders of surfactant dysfunction (MIM #265120, MIM #610913, MIM #610921, MIM #610978) | Variants in SFTPB, SFTPC, ABCA3, or NKX2.1/TTF1, causing deficiencies or dysfunction of surfactant proteins. |
| Lysinuric protein intolerance (MIM #222700) | Variants in SLC7A7, causing defective plasma membrane transport of the cationic amino acids. |
| Interstitial lung and liver disease (La Réunion) (MIM #615486) | Variants in MARS1, causing a rare syndrome of liver failure, PAP, anemia, and delays in motor development, found primarily in the population on La Réunion island. The mechanism of PAP is uncertain. |
| Primary PAP | Disruption of GM-CSF signaling |
| Hereditary PAP | Recessive variants in CSF2RA and CSF2RB, which encode the GM-CSF receptor, alpha and beta subunits, respectively. |
| Autoimmune PAP | Caused by anti-GM-CSF antibodies. This is the most common form of PAP in adults and occasionally occurs in adolescents or children. |
| Secondary PAP | Dysfunction of alveolar macrophages due to underlying disease |
| Infections | Nocardia, Pneumocystis jirovecii, Mycobacterium tuberculosis, Mycobacterium avium-intracellulare, cytomegalovirus. |
| Hematologic malignancies and myelodysplastic syndromes | Multiple myeloma, chronic myelocytic leukemia, Waldenström macroglobulinemia. |
| Immunodeficiencies and immune dysregulation | Agammaglobulinemia, severe combined immunodeficiency (especially adenosine deaminase deficiency), Behçet disease, and juvenile dermatomyositis. Variants in GATA2 and OAS1 also cause immune dysregulation/dysfunction and are associated with PAP. |
| Solid organ and hematopoietic cell transplantation | Mediated by immunosuppressive therapy. |
| Inhalational exposures | Inorganic dust inhalation (silica, aluminum, titanium, tin oxide), organic dust inhalation (agricultural, bakery flour, fertilizer, sawdust), fume inhalation (chlorine, gasoline/petroleum, nitrogen dioxide, paint/varnish, plastic). |
| Idiopathic | |
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