Selected LAM References

McCormack, F. X., Inoue, Y., Moss, J., Singer, L. G., Strange, C., Nakata, K., Barker, A. F., Chapman, J. T., Brantly, M. L., Stocks, J. M., Brown, K. K., Lynch, J. P., 3rd, Goldberg, H. J., Young, L. R., Kinder, B. W., Downey, G. P., Sullivan, E. J., Colby, T. V., McKay, R. T., Cohen, M. M., Korbee, L., Taveira-DaSilva, A. M., Lee, H. S., Krischer, J. P., and Trapnell, B. C. (2011) Efficacy and safety of sirolimus in lymphangioleiomyomatosis. N Engl J Med 364, 1595-1606

Young, L. R., Lee, H.-S., Inoue, Y., Moss, J., Singer, L. G., Strange, C., Nakata, K., Barker, A. F., Chapman, J. T., Brantly, M. L., Stocks, J. M., Brown, K. K., Lynch III, J. P., Goldberg, H. J., Downey, G. P., Swigris, J. J., Taveira-DaSilva, A., Krischer, J. P., Trapnell, B. C., and McCormack, F. X. (2013) Serum VEGF-D concentration as a biomarker of lymphangioleiomyomatosis severity and treatment response: a prospective analysis of the Multicenter International Lymphangioleiomyomatosis Efficacy of Sirolimus (MILES) trial. Lancet Resp Med 1, 445-452

Young, L. R., Franz, D. N., Nagarkatte, P., Fletcher, C. D., Wikenheiser-Brokamp, K. A., Galsky, M. D., Corbridge, T. C., Lam, A. P., Gelfand, M. J., and McCormack, F. X. (2009) Utility of [18F]2-fluoro-2-deoxyglucose-PET in sporadic and tuberous sclerosis-associated lymphangioleiomyomatosis. Chest 136, 926-933

Young, L. R., Vandyke, R., Gulleman, P. M., Inoue, Y., Brown, K. K., Schmidt, L. S., Linehan, W. M., Hajjar, F., Kinder, B. W., Trapnell, B. C., Bissler, J. J., Franz, D. N., and McCormack, F. X. (2010) Serum vascular endothelial growth factor-D prospectively distinguishes lymphangioleiomyomatosis from other diseases. Chest 138, 674-681

Meraj, R., Wikenheiser-Brokamp, K. A., Young, L. R., and McCormack, F. X. (2012) Utility of Transbronchial Biopsy in the Diagnosis of Lymphangioleiomyomatosis. Front. Med 6, 395-405

Cudzilo, C. J., Szczesniak, R. D., Brody, A. S., Rattan, M. S., Krueger, D. A., Bissler, J. J., Franz, D. N., McCormack, F. X., and Young, L. R. (2013) Lymphangioleiomyomatosis screening in women with tuberous sclerosis. Chest 144, 578-585

Smolarek, T. A., Wessner, L. L., McCormack, F. X., Mylet, J. C., Menon, A. G., and Henske, E. P. (1998) Evidence That Lymphangiomyomatosis Is Caused by TSC2 Mutations: Chromosome 16p13 Loss of Heterozygosity in Angio-myolipomas and Lymph Nodes from Women with Lymphangiomyomatosis. Am J Hum Genet 62, 810-815

Karbowniczek, M., Astrinidis, A., Balsara, B. R., Testa, J. R., Lium, J. H., Colby, T. V., McCormack, F. X., and Henske, E. P. (2003) Recurrent lymphangiomyomatosis after transplantation: genetic analyses reveal a metastatic mechanism. Am J Respir Crit Care Med 167, 976-982

Henske, E. P., and McCormack, F. X. (2012) Lymphangioleiomyomatosis - a wolf in sheep's clothing. The Journal of clinical investigation 122, 3807-3816

McCormack, F. X., Travis, W. D., Colby, T. V., Henske, E. P., and Moss, J. (2012) Lymphangioleiomyomatosis: calling it what it is: a low-grade, destructive, metastasizing neoplasm. Am J Respir Crit Care Med 186, 1210-1212

Taveira-DaSilva, A. M., Hathaway, O., Stylianou, M., and Moss, J. (2011) Changes in lung function and chylous effusions in patients with lymphangioleiomyomatosis treated with sirolimus. Ann Intern Med 154, 797-805, W-292-793

Yao, J., Taveira-DaSilva, A. M., Jones, A. M., Julien-Williams, P., Stylianou, M., and Moss, J. (2014) Sustained Effects of Sirolimus on Lung Function and Cystic Lung Lesions in Lymphangioleiomyomatosis. Am J Respir Crit Care Med

Taveira-DaSilva, A. M., Burstein, D., Hathaway, O. M., Fontana, J. R., Gochuico, B. R., Avila, N. A., and Moss, J. (2009) Pneumothorax after air travel in lymphangioleiomyomatosis, idiopathic pulmonary fibrosis, and sarcoidosis. Chest 136, 665-670

Ando, K., Kurihara, M., Kataoka, H., Ueyama, M., Togo, S., Sato, T., Doi, T., Iwakami, S., Takahashi, K., Seyama, K., and Mikami, M. (2013) The efficacy and safety of low-dose sirolimus for treatment of lymphangioleiomyomatosis. Respiratory investigation 51, 175-183


Selected PAP References

Rosen SG, Castleman B, Liebow AA: Pulmonary alveolar proteinosis. N Engl J Med 258:1123–1142, 1958.

Kitamura T, Tanaka N, Watanabe J, et al: Idiopathic pulmonary alveolar proteinosis as an autoimmune disease with neutralizing antibody against granulocyte/macrophage colony-stimulating factor. J Exp Med 190:875–880, 1999.

Seymour JF, Presneill JJ. Pulmonary alveolar proteinosis. Am J Respir Crit Care Med.166:215-35; 2002.

Trapnell BC, et al., Pulmonary alveolar proteinosis. New Engl J Med. 349:2527-39; 2003.

Uchida K, et al., High-affinity autoantibodies specifically eliminate granulocyte-macrophage colony-stimulating factor activity in the lungs of people with idiopathic pulmonary alveolar proteinosis. Blood. 103:1089-98; 2004.

Nogee LM. Genetics of pediatric interstitial lung disease. Curr Opin Pediatr. 18:287–292; 2006.

Thomassen MJ, Barna BP, Malur AG, et al: ABCG1 is deficient in alveolar macrophages of GM-CSF knockout mice and patients with pulmonary alveolar proteinosis. J Lipid Res 48:2762–2768; 2007.

Inoue Y, Trapnell BC, Tazawa R, et al: Characteristics of a large cohort of autoimmune pulmonary alveolar proteinosis patients in Japan. Am J Respir Crit Care Med 177:752–762; 2008.

Xu, Z., Jing, J., Wang, H., Xu, F. and Wang, J. Pulmonary alveolar proteinosis in China: a systematic review of 241 cases. Respirology 14, 761-6; 2009.

Sakagami T, Uchida K, Suzuki T, et al: Human GM-CSF autoantibodies cause pulmonary alveolar proteinosis. N Engl J Med 361:2679–2681; 2009.

Suzuki T, et al. Hereditary pulmonary alveolar proteinosis, pathogenesis, presentation, diagnosis and therapy. Am J Respir Crit Care Med. 182: 1292-1304; 2010.

Trapnell BC, Nakata K, and Kavuru M. Pulmonary Alveolar Proteinosis Syndrome. In: Murray and Nadel Textbook of Respiratory Medicine. 5th Edition. Murray J, Nadel J, Broaddus C, Martin T, King T, Schraufnagel D and Mason B, Eds. Elsevier. (2) 1516-1536; 2010.

Tazawa, R., Trapnell, B.C., Inoue, Y., Arai, T., Takada, T., Nasuhara, Y., Hizawa, N., Kasahara, Y., Tatsumi, K., Hojo, M., Ishii, H., Yokoba, M., Tanaka, N., Yamaguchi, E., Eda, R., Tsuchihashi, Y., Morimoto, K., Akira, M., Terada, M., Otsuka, J., Ebina, M., Kaneko, C., Nukiwa, T., Krischer, J.P., Akazawa, K. and Nakata, K. Inhaled granulocyte/macrophage-colony stimulating factor as therapy for pulmonary alveolar proteinosis. Am J Resp Crit Care Med 181, 1345-54; 2010.

Bonella, F., Bauer, P.C., Griese, M., Ohshimo, S., Guzman, J. and Costabel, U., Pulmonary alveolar proteinosis: new insights from a single-center cohort of 70 patients. Respir Med 105, 1908-16; 2011.

Ishii, H., Tazawa, R., Kaneko, C., Saraya, T., Inoue, Y., Hamano, E., Kogure, Y., Tomii, K., Terada, M., Takada, T., Hojo, M., Nishida, A., Ichiwata, T., Trapnell, B.C., Goto, H. and Nakata, K. Clinical features of secondary pulmonary alveolar proteinosis: pre-mortem cases in Japan. The European respiratory journal 37, 465-8; 2011.

Punatar et al. Opportunistic infections in patients with pulmonary alveolar proteinosis. J Infection. 65: 173-179; 2012.

Carey B, Trapnell BC. The molecular basis of pulmonary alveolar proteinosis. Clin Immunol. 135: 223-235; 2012.

Campo, I., Mariani, F., Rodi, G., Paracchini, E., Tsana, E., Piloni, D., Nobili, I., Kadija, Z., Corsico, A., Cerveri, I., Chalk, C., Trapnell, B.C., Braschi, A., Tinelli, C. and Luisetti, M. Assessment and management of pulmonary alveolar proteinosis in a reference center. Orph J rare Dis 8, 40; 2013.

Uchida K, Nakata k, Carey B, Chalk C, Suzuki T, Sakagami T, Koch DE, Stevens C, Yoshikazu I, Yamada Y, and Trapnell BC. Standardized Serum GM-CSF Autoantibody Testing for the Routine Clinical Diagnosis of Autoimmune Pulmonary Alveolar Proteinosis. J Immunol Meth. 402:57-70; 2014.


Selected HPS References

Gahl, W.A., Brantly, M., Kaiser-Kupfer, M.I., Iwata, F., Hazelwood, S., Shotelersuk, V., Duffy, L.F., Kuehl, E.M., Troendle, J., and Bernardini, I. 1998. Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome). N Engl J Med 338:1258-1264.

Gochuico, B.R., Huizing, M., Golas, G.A., Scher, C.D., Tsokos, M., Denver, S.D., Frei-Jones, M.J., and Gahl, W.A. 2012. Interstitial lung disease and pulmonary fibrosis in Hermansky-Pudlak syndrome type 2, an adaptor protein-3 complex disease. Mol Med 18:56-64.

Seward, S.L., Jr., and Gahl, W.A. 2013. Hermansky-Pudlak syndrome: health care throughout life. Pediatrics 132:153-160.

Brantly, M., Avila, N.A., Shotelersuk, V., Lucero, C., Huizing, M., and Gahl, W.A. 2000. Pulmonary function and high-resolution CT findings in patients with an inherited form of pulmonary fibrosis, Hermansky-Pudlak syndrome, due to mutations in HPS-1. Chest 117:129-136.

Avila, N.A., Brantly, M., Premkumar, A., Huizing, M., Dwyer, A., and Gahl, W.A. 2002. Hermansky-Pudlak syndrome: radiography and CT of the chest compared with pulmonary function tests and genetic studies. AJR Am J Roentgenol 179:887-892.

Gahl, W.A., Brantly, M., Troendle, J., Avila, N.A., Padua, A., Montalvo, C., Cardona, H., Calis, K.A., and Gochuico, B. 2002. Effect of pirfenidone on the pulmonary fibrosis of Hermansky-Pudlak syndrome. Mol Genet Metab 76:234-242.

Rouhani, F.N., Brantly, M.L., Markello, T.C., Helip-Wooley, A., O'Brien, K., Hess, R., Huizing, M., Gahl, W.A., and Gochuico, B.R. 2009. Alveolar macrophage dysregulation in Hermansky-Pudlak syndrome type 1. Am J Respir Crit Care Med 180:1114-1121.

Lederer, D.J., Kawut, S.M., Sonett, J.R., Vakiani, E., Seward, S.L., Jr., White, J.G., Wilt, J.S., Marboe, C.C., Gahl, W.A., and Arcasoy, S.M. 2005. Successful bilateral lung transplantation for pulmonary fibrosis associated with the Hermansky-Pudlak syndrome. J Heart Lung Transplant 24:1697-1699.

O'Brien, K., Troendle, J., Gochuico, B.R., Markello, T.C., Salas, J., Cardona, H., Yao, J., Bernardini, I., Hess, R., and Gahl, W.A. 2011. Pirfenidone for the treatment of Hermansky-Pudlak syndrome pulmonary fibrosis. Mol Genet Metab 103:128-134.

Young, L.R., Gulleman, P.M., Bridges, J.P., Weaver, T.E., Deutsch, G.H., Blackwell, T.S., and McCormack, F.X. 2012. The alveolar epithelium determines susceptibility to lung fibrosis in Hermansky-Pudlak syndrome. Am J Respir Crit Care Med 186:1014-1024.