pulmonary alveolar proteinosis

Summary

Summary: A PULMONARY ALVEOLI-filling disease, characterized by dense phospholipoproteinaceous deposits in the alveoli, cough, and DYSPNEA. This disease is often related to, congenital or acquired, impaired processing of PULMONARY SURFACTANTS by alveolar macrophages, a process dependent on GRANULOCYTE-MACROPHAGE COLONY-STIMULATING FACTOR.

Top Publications

  1. Inaba H, Jenkins J, McCarville M, Morrison R, Howard S, Pui C, et al. Pulmonary alveolar proteinosis in pediatric leukemia. Pediatr Blood Cancer. 2008;51:66-70 pubmed
    b>Pulmonary alveolar proteinosis (PAP) is a rare disorder characterized by intra-alveolar accumulation of periodic acid-Schiff (PAS)-positive surfactant components...
  2. Hattori A, Kuroki Y, Katoh T, Takahashi H, Shen H, Suzuki Y, et al. Surfactant protein A accumulating in the alveoli of patients with pulmonary alveolar proteinosis: oligomeric structure and interaction with lipids. Am J Respir Cell Mol Biol. 1996;14:608-19 pubmed
    b>Pulmonary alveolar proteinosis (PAP) is a diffuse lung disease of unknown etiology in which the alveoli and terminal bronchioles of the lung fill with large amounts of surfactant-rich lipoproteinaceous materials...
  3. Michaud G, Reddy C, Ernst A. Whole-lung lavage for pulmonary alveolar proteinosis. Chest. 2009;136:1678-1681 pubmed publisher
    b>Pulmonary alveolar proteinosis (PAP) is a disease characterized by the deposition of amorphous lipoproteinaceous material in the alveoli secondary to abnormal processing of surfactant by macrophages...
  4. Ceruti M, Rodi G, Stella G, Adami A, Bolongaro A, Baritussio A, et al. Successful whole lung lavage in pulmonary alveolar proteinosis secondary to lysinuric protein intolerance: a case report. Orphanet J Rare Dis. 2007;2:14 pubmed
    b>Pulmonary alveolar proteinosis (PAP) is a rare disease characterised by accumulation of lipoproteinaceous material within alveoli, occurring in three clinically distinct forms: congenital, acquired and secondary...
  5. Hirche T, Crouch E, Espinola M, Brokelman T, Mecham R, DeSilva N, et al. Neutrophil serine proteinases inactivate surfactant protein D by cleaving within a conserved subregion of the carbohydrate recognition domain. J Biol Chem. 2004;279:27688-98 pubmed
    ..Together, our data suggest that neutrophil-derived serine proteinases cleave SP-D at sites of inflammation with potential deleterious effects on its biological functions. ..
  6. Price A, Manson D, Cutz E, Dell S. Pulmonary alveolar proteinosis associated with anti-GM-CSF antibodies in a child: successful treatment with inhaled GM-CSF. Pediatr Pulmonol. 2006;41:367-70 pubmed
  7. Seymour J, Doyle I, Nakata K, Presneill J, Schoch O, Hamano E, et al. Relationship of anti-GM-CSF antibody concentration, surfactant protein A and B levels, and serum LDH to pulmonary parameters and response to GM-CSF therapy in patients with idiopathic alveolar proteinosis. Thorax. 2003;58:252-7 pubmed
    ..Only a normal LDH level predicted a higher likelihood of response to treatment with GM-CSF. ..
  8. Seymour J, Presneill J, Schoch O, Downie G, Moore P, Doyle I, et al. Therapeutic efficacy of granulocyte-macrophage colony-stimulating factor in patients with idiopathic acquired alveolar proteinosis. Am J Respir Crit Care Med. 2001;163:524-31 pubmed
    ..01). Each of 12 patients tested had GM-CSF-neutralizing autoantibodies present in pretreatment serum. We conclude that GM- CSF has therapeutic activity in idiopathic AP, providing a potential alternative to whole-lung lavage. ..
  9. Tazawa R, Trapnell B, Inoue Y, Arai T, Takada T, Nasuhara Y, et al. Inhaled granulocyte/macrophage-colony stimulating factor as therapy for pulmonary alveolar proteinosis. Am J Respir Crit Care Med. 2010;181:1345-54 pubmed publisher
    Inhaled granulocyte/macrophage-colony stimulating factor (GM-CSF) is a promising therapy for pulmonary alveolar proteinosis (PAP) but has not been adequately studied...

More Information

Publications62

  1. Goldschmidt N, Nusair S, Gural A, Amir G, Izhar U, Laxer U. Disseminated Mycobacterium kansasii infection with pulmonary alveolar proteinosis in a patient with chronic myelogenous leukemia. Am J Hematol. 2003;74:221-3 pubmed
    ..An open lung biopsy was required to make the diagnosis of pulmonary alveolar proteinosis (PAP) and infection with Mycobacterium kansasii...
  2. Pollack S, Gutierrez G, Ascensao J. Pulmonary alveolar proteinosis with myeloproliferative syndrome with myelodysplasia: bronchoalveolar lavage reduces white blood cell count. Am J Hematol. 2006;81:634-8 pubmed
    b>Pulmonary alveolar proteinosis (PAP) is a rare disorder characterized by surfactant component accumulation in the alveolar space...
  3. Ohtsuki Y, Kobayashi M, Yoshida S, Kishimoto N, Kubo K, Yokoyama A, et al. Immunohistochemical localisation of surfactant proteins A and D, and KL-6 in pulmonary alveolar proteinosis. Pathology. 2008;40:536-9 pubmed publisher
  4. Lin F, Chen Y, Chang S. Clinical importance of bronchoalveolar lavage fluid and blood cytokines, surfactant protein D, and Kerbs von Lungren 6 antigen in idiopathic pulmonary alveolar proteinosis. Mayo Clin Proc. 2008;83:1344-9 pubmed publisher
    ..Lungren 6 antigen (KL-6) in bronchoalveolar lavage fluid (BALF) and blood in patients with idiopathic pulmonary alveolar proteinosis (iPAP)...
  5. Tazawa R, Hamano E, Arai T, Ohta H, Ishimoto O, Uchida K, et al. Granulocyte-macrophage colony-stimulating factor and lung immunity in pulmonary alveolar proteinosis. Am J Respir Crit Care Med. 2005;171:1142-9 pubmed
    ..colony-stimulating factor (GM-CSF) autoantibody is inferred to cause idiopathic pulmonary alveolar proteinosis (iPAP): the antibody neutralizes GM-CSF and thereby impairs differentiation of alveolar macrophages...
  6. Douda D, Farmakovski N, Dell S, Grasemann H, Palaniyar N. SP-D counteracts GM-CSF-mediated increase of granuloma formation by alveolar macrophages in lysinuric protein intolerance. Orphanet J Rare Dis. 2009;4:29 pubmed publisher
    b>Pulmonary alveolar proteinosis (PAP) is a syndrome with multiple etiologies and is often deadly in lysinuric protein intolerance (LPI)...
  7. Barilli A, Rotoli B, Visigalli R, Bussolati O, Gazzola G, Kadija Z, et al. In Lysinuric Protein Intolerance system y+L activity is defective in monocytes and in GM-CSF-differentiated macrophages. Orphanet J Rare Dis. 2010;5:32 pubmed publisher
    ..A severe complication of LPI is a form of Pulmonary Alveolar Proteinosis (PAP), in which alveolar spaces are filled with lipoproteinaceous material because of the impaired ..
  8. Kavuru M, Malur A, Marshall I, Barna B, Meziane M, Huizar I, et al. An open-label trial of rituximab therapy in pulmonary alveolar proteinosis. Eur Respir J. 2011;38:1361-7 pubmed publisher
    ..b>Pulmonary alveolar proteinosis (PAP) is an autoimmune disorder characterised by autoantibodies to granulocyte-macrophage colony-..
  9. Xu Z, Jing J, Wang H, Xu F, Wang J. Pulmonary alveolar proteinosis in China: a systematic review of 241 cases. Respirology. 2009;14:761-6 pubmed publisher
    b>Pulmonary alveolar proteinosis (PAP) is a rare pulmonary disease. It was first described in China in 1965, and more cases have been reported subsequently...
  10. Thomassen M, Barna B, Malur A, Bonfield T, Farver C, Malur A, et al. ABCG1 is deficient in alveolar macrophages of GM-CSF knockout mice and patients with pulmonary alveolar proteinosis. J Lipid Res. 2007;48:2762-8 pubmed
    Patients with pulmonary alveolar proteinosis (PAP) display impaired surfactant clearance, foamy, lipid-filled alveolar macrophages, and increased cholesterol metabolites within the lung...
  11. Trapnell B, Carey B, Uchida K, Suzuki T. Pulmonary alveolar proteinosis, a primary immunodeficiency of impaired GM-CSF stimulation of macrophages. Curr Opin Immunol. 2009;21:514-21 pubmed publisher
    b>Pulmonary alveolar proteinosis (PAP) is a rare syndrome characterized by accumulation of pulmonary surfactant, respiratory insufficiency, and increased infections...
  12. Uchida K, Nakata K, Suzuki T, Luisetti M, Watanabe M, Koch D, et al. Granulocyte/macrophage-colony-stimulating factor autoantibodies and myeloid cell immune functions in healthy subjects. Blood. 2009;113:2547-56 pubmed publisher
    ..of granulocyte/macrophage-colony-stimulating factor (GM-CSF) autoantibodies are thought to cause pulmonary alveolar proteinosis (PAP), a rare syndrome characterized by myeloid dysfunction resulting in pulmonary surfactant ..
  13. Huizar I, Kavuru M. Alveolar proteinosis syndrome: pathogenesis, diagnosis, and management. Curr Opin Pulm Med. 2009;15:491-8 pubmed publisher
    This review discusses the most recent clinical and basic research literature on pulmonary alveolar proteinosis (PAP) as it relates to pathogenesis, diagnosis, and management...
  14. Greenhill S, Kotton D. Pulmonary alveolar proteinosis: a bench-to-bedside story of granulocyte-macrophage colony-stimulating factor dysfunction. Chest. 2009;136:571-577 pubmed publisher
    b>Pulmonary alveolar proteinosis (PAP) is a rare disorder characterized by ineffective clearance of surfactant by alveolar macrophages...
  15. Ando J, Tamayose K, Sugimoto K, Oshimi K. Late appearance of t(1;19)(q11;q11) in myelodysplastic syndrome associated with dysplastic eosinophilia and pulmonary alveolar proteinosis. Cancer Genet Cytogenet. 2002;139:14-7 pubmed
    We report a case of myelodysplastic syndrome (MDS), which developed marked eosinophilia and pulmonary alveolar proteinosis after the appearance of t(1;19)(q11;q11)...
  16. Nishinakamura R, Wiler R, Dirksen U, Morikawa Y, Arai K, Miyajima A, et al. The pulmonary alveolar proteinosis in granulocyte macrophage colony-stimulating factor/interleukins 3/5 beta c receptor-deficient mice is reversed by bone marrow transplantation. J Exp Med. 1996;183:2657-62 pubmed
    ..component (beta c) for GM-CSF, interleukin (IL)-3, and IL-5 exhibit a lung disorder similar to human pulmonary alveolar proteinosis, a rare disease with congenital, infantile, and adult forms...
  17. Seymour J. Extra-pulmonary aspects of acquired pulmonary alveolar proteinosis as predicted by granulocyte-macrophage colony-stimulating factor-deficient mice. Respirology. 2006;11 Suppl:S16-22 pubmed
    ..Their lung phenotype exactly reproduces the abnormalities seen in human pulmonary alveolar proteinosis (PAP). However, GM-CSF-/- mice also have significant systemic functional abnormalities...
  18. Bonfield T, Farver C, Barna B, Malur A, Abraham S, Raychaudhuri B, et al. Peroxisome proliferator-activated receptor-gamma is deficient in alveolar macrophages from patients with alveolar proteinosis. Am J Respir Cell Mol Biol. 2003;29:677-82 pubmed
    ..In pulmonary alveolar proteinosis (PAP), a rare interstitial lung disease, surfactant accumulates in alveolar airspaces, resident ..
  19. Tian X, Luo J, Xu K, Wang L, Zhou J, Feng R, et al. Impaired lipid metabolism in idiopathic pulmonary alveolar proteinosis. Lipids Health Dis. 2011;10:54 pubmed publisher
    It is well known that lipids abnormally accumulate in the alveoli during idiopathic pulmonary alveolar proteinosis (PAP). It is unclear, however, whether lipids also abnormally accumulate in serum...
  20. Kobayashi M, Takeuchi T, Ohtsuki Y. Differences in the immunolocalization of surfactant protein (SP)-A, SP-D, and KL-6 in pulmonary alveolar proteinosis. Pathol Int. 2008;58:203-7 pubmed publisher
    Idiopathic pulmonary alveolar proteinosis (PAP) is a rare lung disorder characterized by excessive accumulation of surfactant lipoprotein in alveoli, which is caused by autoantibody against granulocyte-macrophage colony-stimulating factor...
  21. Crouch E, Persson A, Chang D. Accumulation of surfactant protein D in human pulmonary alveolar proteinosis. Am J Pathol. 1993;142:241-8 pubmed
    ..the characterization of human SP-D isolated from therapeutic bronchoalveolar lavage of patients with pulmonary alveolar proteinosis. Human proteinosis SP-D was extracted from the 10,000 x g pellet of bronchoalveolar lavage with 100 ..
  22. Dirksen U, Hattenhorst U, Schneider P, Schroten H, Gobel U, Bocking A, et al. Defective expression of granulocyte-macrophage colony-stimulating factor/interleukin-3/interleukin-5 receptor common beta chain in children with acute myeloid leukemia associated with respiratory failure. Blood. 1998;92:1097-103 pubmed
    ..betac deficiency manifests as pulmonary alveolar proteinosis (PAP). PAP has heterogenous etiologies that may be genetic or aquired...
  23. Inoue Y, Nakata K, Arai T, Tazawa R, Hamano E, Nukiwa T, et al. Epidemiological and clinical features of idiopathic pulmonary alveolar proteinosis in Japan. Respirology. 2006;11 Suppl:S55-60 pubmed
    Idiopathic pulmonary alveolar proteinosis (IPAP) is a rare disease characterized by excessive amounts of lipoproteinaceous material in the alveolus...
  24. Kavuru M, Sullivan E, Piccin R, Thomassen M, Stoller J. Exogenous granulocyte-macrophage colony-stimulating factor administration for pulmonary alveolar proteinosis. Am J Respir Crit Care Med. 2000;161:1143-8 pubmed
    b>Pulmonary alveolar proteinosis (PAP) is a rare lung disease characterized by the accumulation of lipoproteinaceous material within the alveoli...
  25. Lin F, Chang G, Chern M, Chen Y, Chang S. Clinical significance of anti-GM-CSF antibodies in idiopathic pulmonary alveolar proteinosis. Thorax. 2006;61:528-34 pubmed
    ..colony stimulating factor (GM-CSF) antibodies as a diagnostic marker in idiopathic pulmonary alveolar proteinosis (iPAP) remains unclear...
  26. Inoue Y, Trapnell B, Tazawa R, Arai T, Takada T, Hizawa N, et al. Characteristics of a large cohort of patients with autoimmune pulmonary alveolar proteinosis in Japan. Am J Respir Crit Care Med. 2008;177:752-62 pubmed publisher
    Acquired pulmonary alveolar proteinosis (PAP) is a syndrome characterized by pulmonary surfactant accumulation occurring in association with granulocyte/macrophage colony-stimulating factor autoantibodies (autoimmune PAP) or as a ..
  27. Carey B, Trapnell B. The molecular basis of pulmonary alveolar proteinosis. Clin Immunol. 2010;135:223-35 pubmed publisher
    b>Pulmonary alveolar proteinosis (PAP) comprises a heterogenous group of diseases characterized by abnormal surfactant accumulation resulting in respiratory insufficiency, and defects in alveolar macrophage- and neutrophil-mediated host ..
  28. Bonfield T, Kavuru M, Thomassen M. Anti-GM-CSF titer predicts response to GM-CSF therapy in pulmonary alveolar proteinosis. Clin Immunol. 2002;105:342-50 pubmed
    b>Pulmonary alveolar proteinosis (PAP) is an idiopathic disease characterized by the accumulation of surfactant in the pulmonary airspaces...
  29. Seymour J, Presneill J. Pulmonary alveolar proteinosis. What is the role of GM-CSF in disease pathogenesis and treatment?. Treat Respir Med. 2004;3:229-34 pubmed
  30. Costabel U, Guzman J, Bonella F, Oshimo S. Bronchoalveolar lavage in other interstitial lung diseases. Semin Respir Crit Care Med. 2007;28:514-24 pubmed
    ..In pulmonary alveolar proteinosis, the sensitivity of a diagnostic BAL is almost 100%, and the characteristic finding of milky and ..
  31. Bonfield T, Barna B, John N, Malur A, Culver D, Kavuru M, et al. Suppression of activin A in autoimmune lung disease associated with anti-GM-CSF. J Autoimmun. 2006;26:37-41 pubmed
    b>Pulmonary alveolar proteinosis (PAP) is an autoimmune disorder characterized by neutralizing autoantibodies to granulocyte-macrophage colony stimulating factor (GM-CSF)...
  32. Hodges O, Zar H, Mamathuba R, Thomas J. Bilateral partial lung lavage in an infant with pulmonary alveolar proteinosis. Br J Anaesth. 2010;104:228-30 pubmed publisher
    b>Pulmonary alveolar proteinosis (PAP) is a rare disease in infancy, resulting from abnormalities of surfactant production or decreased catabolism of surfactant...
  33. Perez A, Rogers R. Enhanced alveolar clearance with chest percussion therapy and positional changes during whole-lung lavage for alveolar proteinosis. Chest. 2004;125:2351-6 pubmed
    b>Pulmonary alveolar proteinosis has traditionally been treated with whole-lung lavage (WLL)...
  34. Meaney S, Bonfield T, Hansson M, Babiker A, Kavuru M, Thomassen M. Serum cholestenoic acid as a potential marker of pulmonary cholesterol homeostasis: increased levels in patients with pulmonary alveolar proteinosis. J Lipid Res. 2004;45:2354-60 pubmed
    ..As an example of pulmonary cholesterol accumulation, a known disorder of surfactant homeostasis, pulmonary alveolar proteinosis (PAP), was studied...
  35. Campo I, Mariani F, Rodi G, Paracchini E, Tsana E, Piloni D, et al. Assessment and management of pulmonary alveolar proteinosis in a reference center. Orphanet J Rare Dis. 2013;8:40 pubmed publisher
    b>Pulmonary alveolar proteinosis (PAP) is a term defining an ultra-rare group of disorders characterised by a perturbation in surfactant homeostasis, resulting in its accumulation within airspaces and impaired gas transfer...
  36. Bonfield T, Swaisgood C, Barna B, Farver C, Kavuru M, Thomassen M. Elevated gelatinase activity in pulmonary alveolar proteinosis: role of macrophage-colony stimulating factor. J Leukoc Biol. 2006;79:133-9 pubmed
    b>Pulmonary alveolar proteinosis (PAP) is an anti-granulocyte macrophage-colony stimulating factor (GM-CSF) autoimmune disease resulting in the accumulation of phospholipids in the alveoli...
  37. Bates S, Tao J, Collins H, Francone O, Rothblat G. Pulmonary abnormalities due to ABCA1 deficiency in mice. Am J Physiol Lung Cell Mol Physiol. 2005;289:L980-9 pubmed
    ..The results indicate that the activity of ABCA1 is important for the maintenance of normal lung lipid composition, structure, and function...
  38. Ito T, Yoshii C, Imanaga T, Hayashi T, Kawanami K, Kido M. [A case of pulmonary alveolar proteinosis complicated with pneumoconiosis and myelodysplastic syndrome]. Nihon Kokyuki Gakkai Zasshi. 2001;39:710-5 pubmed
    ..We also considered the possibility that defective pulmonary macrophage function due to myelodysplastic syndrome and long-term silica inhalation played a part in the development of pulmonary alveolar proteinosis in this case.
  39. Ghio A, Stonehuerner J, Richards J, Crissman K, Roggli V, Piantadosi C, et al. Iron homeostasis and oxidative stress in idiopathic pulmonary alveolar proteinosis: a case-control study. Respir Res. 2008;9:10 pubmed publisher
    ..Because inhaled particles, such as silica, and certain infections can cause secondary pulmonary alveolar proteinosis (PAP), we tested the hypothesis that idiopathic PAP is associated with an altered iron homeostasis in ..
  40. Mukae H, Ishimoto H, Yanagi S, Ishii H, Nakayama S, Ashitani J, et al. Elevated BALF concentrations of alpha- and beta-defensins in patients with pulmonary alveolar proteinosis. Respir Med. 2007;101:715-21 pubmed
    ..were measured by radioimmunoassay in 63 patients with interstitial lung diseases, including idiopathic pulmonary alveolar proteinosis (PAP), IPF, nonspecific interstitial pneumonia (NSIP), cryptogenic organizing pneumonia (COP) and ..
  41. Beccaria M, Luisetti M, Rodi G, Corsico A, Zoia M, Colato S, et al. Long-term durable benefit after whole lung lavage in pulmonary alveolar proteinosis. Eur Respir J. 2004;23:526-31 pubmed
    Whole lung lavage (WLL) is still the gold-standard therapy for pulmonary alveolar proteinosis (PAP). The few studies on the duration of the effect of WLL, belonging to a rather remote period, show significant but transient benefits...
  42. Morbini P, Guddo F, Contini P, Luisetti M, Schiavina M, Zompatori M. Rare diffuse diseases of the lung. Pulmonary alveolar proteinosis, lymphangioleiomyomatosis, amyloidosis. Pathologica. 2010;102:547-56 pubmed
    b>Pulmonary alveolar proteinosis (PAP), lymphangioleyomiomatosis (LAM) and amyloidosis are three unrelated diseases of rare occurrence, with characteristic histopathological features...
  43. Bonella F, Bauer P, Griese M, Ohshimo S, Guzman J, Costabel U. Pulmonary alveolar proteinosis: new insights from a single-center cohort of 70 patients. Respir Med. 2011;105:1908-16 pubmed publisher
    b>Pulmonary alveolar proteinosis (PAP) is a rare syndrome characterized by the intra-alveolar accumulation of surfactant lipids and proteins...
  44. Trapnell B, Whitsett J, Nakata K. Pulmonary alveolar proteinosis. N Engl J Med. 2003;349:2527-39 pubmed
  45. Cummings K, Donat W, Ettensohn D, Roggli V, Ingram P, Kreiss K. Pulmonary alveolar proteinosis in workers at an indium processing facility. Am J Respir Crit Care Med. 2010;181:458-64 pubmed publisher
    Two cases of pulmonary alveolar proteinosis, including one death, occurred in workers at a facility producing indium-tin oxide (ITO), a compound used in recent years to make flat panel displays...
  46. Suzuki T, Sakagami T, Rubin B, Nogee L, Wood R, Zimmerman S, et al. Familial pulmonary alveolar proteinosis caused by mutations in CSF2RA. J Exp Med. 2008;205:2703-10 pubmed publisher
    Primary pulmonary alveolar proteinosis (PAP) is a rare syndrome characterized by accumulation of surfactant in the lungs that is presumed to be mediated by disruption of granulocyte/macrophage colony-stimulating factor (GM-CSF) signaling ..
  47. Abdul Rahman J, Moodley Y, Phillips M. Pulmonary alveolar proteinosis associated with psoriasis and complicated by mycobacterial infection: successful treatment with granulocyte-macrophage colony stimulating factor after a partial response to whole lung lavage. Respirology. 2004;9:419-22 pubmed
    b>Pulmonary alveolar proteinosis (PAP) is a rare lung disease. Although whole lung lavage is considered the most effective treatment, not every patient shows a complete response...
  48. Persson H, Vainikka L. Lysosomal iron in pulmonary alveolar proteinosis: a case report. Eur Respir J. 2009;33:673-9 pubmed publisher
    b>Pulmonary alveolar proteinosis is characterised by accumulation of surfactant-like material in the distal air spaces...
  49. Kleff V, Sorg U, Bury C, Suzuki T, Rattmann I, Jerabek Willemsen M, et al. Gene therapy of beta(c)-deficient pulmonary alveolar proteinosis (beta(c)-PAP): studies in a murine in vivo model. Mol Ther. 2008;16:757-64 pubmed publisher
    b>Pulmonary alveolar proteinosis (PAP) due to deficiency of the common beta-chain (beta(c)) of the interleukin-3 (IL-3)/IL-5/granulocyte-macrophage colony-stimulating factor (GM-CSF) receptors is a rare monogeneic disease characterized by ..
  50. Luisetti M, Kadija Z, Mariani F, Rodi G, Campo I, Trapnell B. Therapy options in pulmonary alveolar proteinosis. Ther Adv Respir Dis. 2010;4:239-48 pubmed publisher
    b>Pulmonary alveolar proteinosis is a rare condition characterized by the accumulation of lipoproteinaceous material within the airspaces, resulting in impaired gas transfer, and clinical manifestations ranging from asymptomatic to severe ..
  51. Doerschuk C. Pulmonary alveolar proteinosis--is host defense awry?. N Engl J Med. 2007;356:547-9 pubmed
  52. Nogee L, Garnier G, Dietz H, Singer L, Murphy A, deMello D, et al. A mutation in the surfactant protein B gene responsible for fatal neonatal respiratory disease in multiple kindreds. J Clin Invest. 1994;93:1860-3 pubmed
    ..We conclude that this mutation is responsible for SP-B deficiency and neonatal alveolar proteinosis in multiple families and speculate that the disorder is more common than was recognized previously. ..
  53. Robinson T, Trapnell B, Goris M, Quittell L, Cornfield D. Quantitative analysis of longitudinal response to aerosolized granulocyte-macrophage colony-stimulating factor in two adolescents with autoimmune pulmonary alveolar proteinosis. Chest. 2009;135:842-848 pubmed publisher
    Autoimmune pulmonary alveolar proteinosis (APAP) is characterized by autoantibodies against granulocyte-macrophage colony-stimulating factor (GM-CSF) in blood and tissues, resulting in alveolar surfactant protein accumulation...