Genetic basis of children's interstitial lung disease

Pediatric, Allergy, Immunology, and Pulmonology

Volumn 23, Issue 1, 2010, Pages 15-24

  Nogee, Lawrence M ^a  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ABC TRANSPORTER A1; GRANULOCYTE MACROPHAGE COLONY STIMULATING FACTOR RECEPTOR; SURFACTANT; SURFACTANT PROTEIN A; SURFACTANT PROTEIN B; SURFACTANT PROTEIN C; TELOMERASE; THYROID TRANSCRIPTION FACTOR 1;

ALVEOLAR CAPILLARY DYSPLASIA; CHILDHOOD DISEASE; CHROMOSOME DELETION; EXTRACORPOREAL OXYGENATION; GENE EXPRESSION; GENETIC ASSOCIATION; HETEROZYGOSITY LOSS; HUMAN; INTERSTITIAL LUNG DISEASE; LOSS OF FUNCTION MUTATION; LUNG ALVEOLUS EPITHELIUM; LUNG ALVEOLUS PROTEINOSIS; LUNG DEVELOPMENT; LUNG FIBROSIS; LYSINURIC PROTEIN INTOLERANCE; NEONATAL RESPIRATORY DISTRESS SYNDROME; NONHUMAN; PRIORITY JOURNAL; PULMONARY VEIN; REVIEW;

EID: 78049384356     PISSN: 2151321X     EISSN: 21513228     Source Type: Journal    
DOI: 10.1089/ped.2009.0024     Document Type: Review

References (112)

1. Dinwiddie R, Sharief N, Crawford O. Idiopathic interstitial pneumonitis in children: a national survey in the United Kingdom and Ireland. Pediatr Pulmonol 2002; 34:23-29.
2. Fan LL, Langston C. Chronic interstitial lung disease in children. Pediatr Pulmonol 1993; 16:184-196.
3. Goerke J. Pulmonary surfactant: functions and molecular composition. Biochim Biophys Acta 1998; 1408:79-89.
4. Farrell PM, Avery ME. Hyaline membrane disease. Am Rev Respir Dis 1975; 111:657-688.
5. Weaver TE, Na CL, Stahlman M. Biogenesis of lamellar bodies, lysosome-related organelles involved in storage and secretion of pulmonary surfactant. Semin Cell Dev Biol 2002; 13:263-270.
6. Weaver TE, Conkright JJ. Function of surfactant proteins B and C. Annu Rev Physiol 2001; 63:555-578.
7. Crouch E, Wright JR. Surfactant proteins a and d and pulmonary host defense. Annu Rev Physiol 2001; 63:521-554.
8. Hawgood S, Poulain FR. The pulmonary collectins and surfactant metabolism. Annu Rev Physiol 2001; 63:495-519.
9. Trapnell BC, Whitsett JA. Gm-CSF regulates pulmonary surfactant homeostasis and alveolar macrophage-mediated innate host defense. Annu Rev Physiol 2002; 64:775-802.
10. Shibata Y, Berclaz PY, Chroneos ZC, Yoshida M, Whitsett JA, Trapnell BC. GM-CSF regulates alveolar macrophage differentiation and innate immunity in the lung through PU.1. Immunity 2001; 15:557-567.
11. Uchida K, Nakata K, Trapnell BC, Terakawa T, Hamano E, Mikami A, Matsushita I, Seymour JF, Oh-Eda M, Ishige I, Eishi Y, Kitamura T, Yamada Y, Hanaoka K, Keicho N. High-affi nity autoantibodies specifi cally eliminate granulocyte-macrophage colony-stimulating factor activity in the lungs of patients with idiopathic pulmonary alveolar proteinosis. Blood 2004; 103:1089-1098.
12. Bonfield TL, Russell D, Burgess S, Malur A, Kavuru MS, Thomassen MJ. Autoantibodies against granulocyte macrophage colony-stimulating factor are diagnostic for pulmonary alveolar proteinosis. Am J Respir Cell Mol Biol 2002; 27:481-486.
13. Kitamura T, Tanaka N, Watanabe J, Uchida, Kanegasaki S, Yamada Y, Nakata K. Idiopathic pulmonary alveolar proteinosis as an autoimmune disease with neutralizing antibody against granulocyte/macrophage colony-stimulating factor. J Exp Med 1999; 190:875-880.
14. Weaver TE. Synthesis, processing and secretion of surfactant proteins B and C. Biochim Biophys Acta 1998; 1408: 173-179.
15. Whitsett JA, Ohning BL, Ross G, Meuth J, Weaver T, Holm BA, Shapiro DL, Notter RH. Hydrophobic surfactant-associated protein in whole lung surfactant and its importance for biophysical activity in lung surfactant extracts used for replacement therapy. Pediatr Res 1986; 20:460-467.
16. Dean M, Rzhetsky A, Allikmets R. The human ATP-binding cassette (ABC) transporter superfamily. Genome Res 2001; 11:1156-1166. (Pubitemid 32677289)
17. Peelman F, Labeur C, Vanloo B, Roosbeek S, Devaud C, Duverger N, Denèfle P, Rosier M, Vandekerckhove J, Rosseneu M. Characterization of the ABCA transporter subfamily: identifi cation of prokaryotic and eukaryotic members, phylogeny and topology. J Mol Biol 2003; 325:259-274.
18. Kaminski WE, Piehler A, Wenzel JJ. ABC A-subfamily transporters: structure, function and disease. Biochim Biophys Acta 2006; 1762:510-524.
19. Dean M, Allikmets R. Complete characterization of the human ABC gene family. J Bioenerg Biomembr 2001; 33:475-479.
20. Yamano G, Funahashi H, Kawanami O, Zhao LX, Ban N, Uchida Y, Morohoshi T, Ogawa J, Shioda S, Inagaki N. ABCA3 is a lamellar body membrane protein in human lung alveolar type II cells. FEBS Lett 2001; 508:221-225.
21. Mulugeta S, Gray JM, Notarfrancesco KL, Gonzales LW, Koval M, Feinstein SI, Ballard PL, Fisher AB, Shuman H. Identifi cation of LBM180, a lamellar body limiting membrane protein of alveolar type II cells, as the ABC transporter protein ABCA3. J Biol Chem 2002; 277:22147-22155.
22. Ban N, Matsumura Y, Sakai H, Takanezawa Y, Sasaki M, Arai H, Inagaki N. ABCA3 as a lipid transporter in pulmonary surfactant biogenesis. J Biol Chem 2007; 282:9628-9634.
23. Fitzgerald ML, Xavier R, Haley KJ, Welti R, Goss JL, Brown CE, Zhuang DZ, Bell SA, Lu N, McKee M, Seed B, Freeman MW. ABCA3 inactivation in mice causes respiratory failure, loss of pulmonary surfactant, and depletion of lung phosphatidylglycerol. J Lipid Res 2007; 48:621-632.
24. Garmany TH, Moxley MA, White FV, Dean M, Hull WM, Whitsett JA, Nogee LM, Hamvas A. Surfactant composition and function in patients with ABCA3 mutations. Pediatr Res 2006; 59:801-805.
25. Shulenin S, Nogee LM, Annilo T, Wert SE, Whitsett JA, Dean M. ABCA3 gene mutations in newborns with fatal surfactant defi ciency. N Engl J Med 2004; 350:1296-1303.
26. Edwards V, Cutz E, Viero S, Moore AM, Nogee L. Ultrastructure of lamellar bodies in congenital surfactant defi ciency. Ultrastruct Pathol 2005; 29:503-509.
27. Tryka AF, Wert SE, Mazursky JE, Arrington RW, Nogee LM. Absence of lamellar bodies with accumulation of dense bodies characterizes a novel form of congenital surfactant defect. Pediatr Dev Pathol 2000; 3:335-345.
28. Nogee LM, de Mello DE, Dehner LP, Colten HR. Brief report: defi ciency of pulmonary surfactant protein B in congenital alveolar proteinosis. N Engl J Med 1993; 328:406-410.
29. Nogee LM, Wert SE, Proffi t SA, Hull WM, Whitsett JA. Allelic heterogeneity in hereditary surfactant protein B (SP-B) defi-ciency. Am J Respir Crit Care Med 2000; 161:973-981.
30. Somaschini M, Nogee LM, Sassi I, Danhaive O, Presi S, Boldrini R, Montrasio C, Ferrari M, Wert SE, Carrera P. Unexplained neonatal respiratory distress due to congenital surfactant deficiency. J Pediatr 2007; 150:649-53, 653.e1.
31. Tredano M, Griese M, de Blic J, Lorant T, Houdayer C, Schumacher S, Cartault F, Capron F, Boccon-Gibod L, Lacaze-Masmonteil T, Renolleau S, Delaisi B, Elion J, Couderc R, Bahuau M. Analysis of 40 sporadic or familial neonatal and pediatric cases with severe unexplained respiratory distress: relationship to SFTPB. Am J Med Genet A 2003; 119A:324-339.
32. Nogee LM, Garnier G, Dietz HC, Singer L, Murphy AM, deMello DE, Colten HR. A mutation in the surfactant protein B gene responsible for fatal neonatal respiratory disease in multiple kindreds. J Clin Invest 1994; 93:1860-1863.
33. Tredano M, Cooper DN, Stuhrmann M, Christodoulou J, Chuzhanova NA, Roudot-Thoraval F, Boëlle PY, Elion J, Jeanpierre M, Feingold J, Couderc R, Bahuau M. Origin of the prevalent SFTPB indel g.1549C > GAA (121ins2) mutation causing surfactant protein B (SP-B) defi ciency. Am J Med Genet A 2006; 140:62-69.
34. Hamvas A, Nogee LM, Mallory GB Jr, Spray TL, Huddleston CB, August A, Dehner LP, deMello DE, Moxley M, Nelson R, Cole FS, Colten HR. Lung transplantation for treatment of infants with surfactant protein B defi ciency. J Pediatr 1997; 130:231-239.
35. Palomar LM, Nogee LM, Sweet SC, Huddleston CB, Cole FS, Hamvas A. Long-term outcomes after infant lung transplantation for surfactant protein B defi ciency related to other causes of respiratory failure. J Pediatr 2006; 149:548-553.
36. Ballard PL, Nogee LM, Beers MF, Ballard RA, Planer BC, Polk L, deMello DE, Moxley MA, Longmore WJ. Partial defi ciency of surfactant protein B in an infant with chronic lung disease. Pediatrics 1995; 96:1046-1052.
37. Dunbar AE 3rd, Wert SE, Ikegami M, Whitsett JA, Hamvas A, White FV, Piedboeuf B, Jobin C, Guttentag S, Nogee LM. Prolonged survival in hereditary surfactant protein B (SP-B) defi ciency associated with a novel splicing mutation. Pediatr Res 2000; 48:275-282.
38. Nogee LM, Dunbar AE 3rd, Wert SE, Askin F, Hamvas A, Whitsett JA. A mutation in the surfactant protein C gene associated with familial interstitial lung disease. N Engl J Med 2001; 344:573-579.
39. Soraisham AS, Tierney AJ, Amin HJ. Neonatal respiratory failure associated with mutation in the surfactant protein C gene. J Perinatol 2006; 26:67-70.
40. Cameron HS, Somaschini M, Carrera P, Hamvas A, Whitsett JA, Wert SE, Deutsch G, Nogee LM. A common mutation in the surfactant protein C gene associated with lung disease. J Pediatr 2005; 146:370-375.
41. Nogee LM, Dunbar AE, III, Wert S, Askin F, Hamvas A, Whitsett JA. Mutations in the surfactant protein C gene associated with interstitial lung disease. Chest 2002; 121(3 Suppl): 20S-21S.
42. Thomas AQ, Lane K, Phillips J, III, Prince M, Markin C, Speer M, Schwartz DA, Gaddipati R, Marney A, Johnson J, Roberts R, Haines J, Stahlman M, Loyd JE. Heterozygosity for a surfactant protein C gene mutation associated with usual interstitial pneumonitis and cellular nonspecifi c interstitial pneumonitis in one kindred. Am J Respir Crit Care Med 2002; 165:1322-1328.
43. Abou Taam R, Jaubert F, Emond S, Le Bourgeois M, Epaud R, Karila C, Feldmann D, Scheinmann P, de Blic J. Familial interstitial disease with I73T mutation: A mid-and long-term study. Pediatr Pulmonol 2009; 44:167-175.
44. Bullard JE, Nogee LM. Heterozygosity for ABCA3 mutations modifi es the severity of lung disease associated with a surfactant protein C gene (SFTPC) mutation. Pediatr Res 2007; 62:176-179.
45. Brasch F, Griese M, Tredano M, Johnen G, Ochs M, Rieger C, Mulugeta S, Müller KM, Bahuau M, Beers MF. Interstitial lung disease in a baby with a de novo mutation in the SFTPC gene. Eur Respir J 2004; 24:30-39.
46. Percopo S, Cameron HS, Nogee LM, Pettinato G, Montella S, Santamaria F. Variable phenotype associated with SP-C gene mutations: fatal case with the I73T mutation. Eur Respir J 2004; 24:1072-1073.
47. Stevens PA, Pettenazzo A, Brasch F, Mulugeta S, Baritussio A, Ochs M, Morrison L, Russo SJ, Beers MF. Nonspecifi c interstitial pneumonia, alveolar proteinosis, and abnormal proprotein traffi cking resulting from a spontaneous mutation in the surfactant protein C gene. Pediatr Res 2005; 57:89-98.
48. Guillot L, Epaud R, Thouvenin G, Jonard L, Mohsni A, Couderc R, Counil F, de Blic J, Taam RA, Le Bourgeois M, Reix P, Flamein F, Clement A, Feldmann D. New surfactant protein C gene mutations associated with diffuse lung disease. J Med Genet 2009; 46:490-494.
49. Whitsett JA, Wert SE, Weaver TE. Alveolar surfactant homeostasis and the pathogenesis of pulmonary disease. Annu Rev Med 2009. [Epub ahead of print]
50. Nerelius C, Martin E, Peng S, Gustafsson M, Nordling K, Weaver T, Johansson J. Mutations linked to interstitial lung disease can abrogate anti-amyloid function of prosurfactant protein C. Biochem J 2008; 416:201-209.
51. Bridges JP, Xu Y, Na CL, Wong HR, Weaver TE. Adaptation and increased susceptibility to infection associated with constitutive expression of misfolded SP-C. J Cell Biol 2006; 172:395-407.
52. Bridges JP, Wert SE, Nogee LM, Weaver TE. Expression of a human surfactant protein C mutation associated with interstitial lung disease disrupts lung development in transgenic mice. J Biol Chem 2003; 278:52739-52746.
53. Mulugeta S, Nguyen V, Russo SJ, Muniswamy M, Beers MF. A surfactant protein C precursor protein BRICHOS domain mutation causes endoplasmic reticulum stress, proteasome dysfunction, and caspase 3 activation. Am J Respir Cell Mol Biol 2005; 32:521-530.
54. Beers MF, Mulugeta S. Surfactant protein C biosynthesis and its emerging role in conformational lung disease. Annu Rev Physiol 2005; 67:663-696.
55. Mulugeta S, Maguire JA, Newitt JL, Russo SJ, Kotorashvili A, Beers MF. Misfolded BRICHOS SP-C mutant proteins induce apoptosis via caspase-4-and cytochrome c-related mechanisms. Am J Physiol Lung Cell Mol Physiol 2007; 293:L720-L729.
56. Rosen DM, Waltz DA. Hydroxychloroquine and surfactant protein C defi ciency. N Engl J Med 2005; 352:207-208.
57. Hamvas A, Nogee LM, White FV, Schuler P, Hackett BP, Huddleston CB, Mendeloff EN, Hsu FF, Wert SE, Gonzales LW, Beers MF, Ballard PL. Progressive lung disease and surfactant dysfunction with a deletion in surfactant protein C gene. Am J Respir Cell Mol Biol 2004; 30:771-776.
58. Garmany TH, Wambach JA, Heins HB, Watkins-Torry JM, Wegner DJ, Bennet K, An P, Land G, Saugstad OD, Henderson H, Nogee LM, Cole FS, Hamvas A. Population and diseasebased prevalence of the common mutations associated with surfactant defi ciency. Pediatr Res 2008; 63:645-649.
59. Bullard JE, Wert SE, Whitsett JA, Dean M, Nogee LM. ABCA3 mutations associated with pediatric interstitial lung disease. Am J Respir Crit Care Med 2005; 172:1026-1031.
60. Brasch F, Schimanski S, Mühlfeld C, Barlage S, Langmann T, Aslanidis C, Boettcher A, Dada A, Schroten H, Mildenberger E, Prueter E, Ballmann M, Ochs M, Johnen G, Griese M, Schmitz G. Alteration of the pulmonary surfactant system in full-term infants with hereditary ABCA3 defi ciency. Am J Respir Crit Care Med 2006; 174:571-580.
61. Bruder E, Hofmeister J, Aslanidis C, Hammer J, Bubendorf L, Schmitz G, Rufle A, Bührer C. Ultrastructural and molecular analysis in fatal neonatal interstitial pneumonia caused by a novel ABCA3 mutation. Mod Pathol 2007; 20:1009-1018.
62. Kunig AM, Parker TA, Nogee LM, Abman SH, Kinsella JP. ABCA3 defi ciency presenting as persistent pulmonary hypertension of the newborn. J Pediatr 2007; 151:322-324.
63. Saugstad OD, Hansen TW, Rønnestad A, Nakstad B, Tølløfsrud PA, Reinholt F, Hamvas A, Coles FS, Dean M, Wert SE, Whitsett JA, Nogee LM. Novel mutations in the gene encoding ATP binding cassette protein member A3 (ABCA3) resulting in fatal neonatal lung disease. Acta Paediatr 2007; 96:185-190.
64. Doan ML, Guillerman RP, Dishop MK, Nogee LM, Langston C, Mallory GB, Sockrider MM, Fan LL. Clinical, radiological and pathological features of ABCA3 mutations in children. Thorax 2008; 63:366-373.
65. Yokota T, Matsumura Y, Ban N, Matsubayashi T, Inagaki N. Heterozygous ABCA3 mutation associated with non-fatal evolution of respiratory distress. Eur J Pediatr 2008; 167:691-693.
66. Young LR, Nogee LM, Barnett B, Panos RJ, Colby TV, Deutsch GH. Usual interstitial pneumonia in an adolescent with ABCA3 mutations. Chest 2008; 134:192-195.
67. Anandarajan M, Paulraj S, Tubman R. ABCA3 Defi ciency: an unusual cause of respiratory distress in the newborn. Ulster Med J 2009; 78:51-52.
68. Hamvas A, Nogee LM, Wegner DJ, Depass K, Christodoulou J, Bennetts B, McQuade LR, Gray PH, Deterding RR, Carroll TR, Kammesheidt A, Kasch LM, Kulkarni S, Cole FS. Inherited surfactant defi ciency caused by uniparental disomy of rare mutations in the surfactant protein-B and ATP binding cassette, subfamily A, member 3 genes. J Pediatr 2009; 155:854-859.e1.
69. Cheong N, Madesh M, Gonzales LW, Zhao M, Yu K, Ballard PL, Shuman H. Functional and traffi cking defects in ABCA3 mutants associated with respiratory distress syndrome. J Biol Chem 2006; 281:9791-9800.
70. Matsumura Y, Ban N, Ueda K, Inagaki N. Characterization and classifi cation of ATP-binding cassette transporter ABCA3 mutants in fatal surfactant defi ciency. J Biol Chem 2006; 281:34503-34514.
71. Matsumura Y, Sakai H, Sasaki M, Ban N, Inagaki N. ABCA3-mediated choline-phospholipids uptake into intracellular vesicles in A549 cells. FEBS Lett 2007; 581:3139-3144.
72. Matsumura Y, Ban N, Inagaki N. Aberrant catalytic cycle and impaired lipid transport into intracellular vesicles in ABCA3 mutants associated with nonfatal pediatric interstitial lung disease. Am J Physiol Lung Cell Mol Physiol 2008; 295:L698-L707.
73. Yoshida I, Ban N, Inagaki N. Expression of ABCA3, a causative gene for fatal surfactant defi ciency, is up-regulated by glucocorticoids in lung alveolar type II cells. Biochem Biophys Res Commun 2004; 323:547-555.
74. Devriendt K, Vanhole C, Matthijs G, de Zegher F. Deletion of thyroid transcription factor-1 gene in an infant with neonatal thyroid dysfunction and respiratory failure. N Engl J Med 1998; 338:1317-1318.
75. Iwatani N, Mabe H, Devriendt K, Kodama M, Miike T. Deletion of NKX2.1 gene encoding thyroid transcription factor-1 in two siblings with hypothyroidism and respiratory failure. J Pediatr 2000; 137:272-276.
76. Pohlenz J, Dumitrescu A, Zundel D, Martiné U, Schönberger W, Koo E, Weiss RE, Cohen RN, Kimura S, Refetoff S. Partial defi ciency of thyroid transcription factor 1 produces predominantly neurological defects in humans and mice. J Clin Invest 2002; 109:469-473.
77. Krude H, Schütz B, Biebermann H, von Moers A, Schnabel D, Neitzel H, Tönnies H, Weise D, Lafferty A, Schwarz S, DeFelice M, von Deimling A, van Landeghem F, DiLauro R, Grüters A. Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsuffi ciency. J Clin Invest 2002; 109:475-480.
78. Devos D, Vuillaume I, de Becdelievre A, de Martinville B, Dhaenens CM, Cuvellier JC, Cuisset JM, Vallée L, Lemaitre MP, Bourteel H, Hachulla E, Wallaert B, Destée A, Defebvre L, Sablonnière B. New syndromic form of benign hereditary chorea is associated with a deletion of TITF-1 and PAX-9 contiguous genes. Mov Disord 2006; 21:2237-2240.
79. Breedveld GJ, van Dongen JW, Danesino C, Guala A, Percy AK, Dure LS, Harper P, Lazarou LP, van der Linde H, Joosse M, Grüters A, MacDonald ME, de Vries BB, Arts WF, Oostra BA, Krude H, Heutink P. Mutations in TITF-1 are associated with benign hereditary chorea. Hum Mol Genet 2002; 11:971-979.
80. do Carmo Costa M, Costa C, Silva AP, Evangelista P, Santos L, Ferro A, Sequeiros J, Maciel P. Nonsense mutation in TITF1 in a Portuguese family with benign hereditary chorea. Neurogenetics 2005; 6:209-215.
81. Willemsen MA, Breedveld GJ, Wouda S, Otten BJ, Yntema JL, Lammens M, de Vries BB. Brain-Thyroid-Lung syndrome: a patient with a severe multi-system disorder due to a de novo mutation in the thyroid transcription factor 1 gene. Eur J Pediatr 2005; 164:28-30.
82. Carré A, Szinnai G, Castanet M, Sura-Trueba S, Tron E, Broutin-L'Hermite I, Barat P, Goizet C, Lacombe D, Moutard ML, Raybaud C, Raynaud-Ravni C, Romana S, Ythier H, Léger J, Polak M. Five new TTF1/NKX2.1 mutations in brain-lungthyroid syndrome: rescue by PAX8 synergism in one case. Hum Mol Genet 2009; 18:2266-2276.
83. Moya CM, Perez de Nanclares G, Castaño L, Potau N, Bilbao JR, Carrascosa A, Bargadá M, Coya R, Martul P, Vicens-Calvet E, Santisteban P. Functional study of a novel single deletion in the TITF1/NKX2.1 homeobox gene that produces congenital hypothyroidism and benign chorea but not pulmonary distress. J Clin Endocrinol Metab 2006; 91:1832-1841.
84. Ferrara AM, De Michele G, Salvatore E, Di Maio L, Zampella E, Capuano S, Del Prete G, Rossi G, Fenzi G, Filla A, Macchia PE. A novel NKX2.1 mutation in a family with hypothyroidism and benign hereditary chorea. Thyroid 2008; 18:1005-1009.
85. Langston C. Misalignment of pulmonary veins and alveolar capillary dysplasia. Pediatr Pathol 1991; 11:163-170.
86. Oldenburg J, Van Der Pal HJ, Schrevel LS, Blok AP, Wagenvoort CA. Misalignment of lung vessels and alveolar capillary dysplasia. Histopathology 1995; 27:192-194.
87. Thibeault DW, Garola RE, Kilbride HW. Alveolar capillary dysplasia: an emerging syndrome. J Pediatr 1999; 134:661-662.
88. Abdallah HI, Karmazin N, Marks LA. Late presentation of misalignment of lung vessels with alveolar capillary dysplasia. Crit Care Med 1993; 21:628-630.
89. Boggs S, Harris MC, Hoffman DJ, Goel R, McDonald-McGinn D, Langston C, Zackai E, Ruchelli E. Misalignment of pulmonary veins with alveolar capillary dysplasia: affected siblings and variable phenotypic expression. J Pediatr 1994; 124:125-128.
90. Al-Hathlol K, Phillips S, MK Seshia, Casiro O, Alvaro RE, Rigatto H. Alveolar capillary dysplasia. Report of a case of prolonged life without extracorporeal membrane oxygenation (ECMO) and review of the literature. Early Hum Dev 2000; 57:85-94.
91. Shankar V, Haque A, Johnson J, Pietsch J. Late presentation of alveolar capillary dysplasia in an infant. Pediatr Crit Care Med 2006; 7:177-179.
92. Ahmed S, Ackerman V, Faught P, Langston C. Profound hypoxemia and pulmonary hypertension in a 7-month-old infant: late presentation of alveolar capillary dysplasia. Pediatr Crit Care Med 2008; 9:e43-e46.
93. Deutsch GH, Young LR, Deterding RR, Fan LL, Dell SD, Bean JA, Brody AS, Nogee LM, Trapnell BC, Langston C, Albright EA, Askin FB, Baker P, Chou PM, Cool CM, Coventry SC, Cutz E, Davis MM, Dishop MK, Galambos C, Patterson K, Travis WD, Wert SE, White FV; Pathology Cooperative Group; chILD Research Co-operative; Pathology Cooperative Group; chILD Research Co-operative. Diffuse lung disease in young children: application of a novel classifi cation scheme. Am J Respir Crit Care Med 2007; 176:1120-1128.
94. Cassidy J, Smith J, Goldman A, Haynes S, Smith E, Wright C, Haworth S, Davis P, Firmin R, Kasem K, Davis C. The incidence and characteristics of neonatal irreversible lung dysplasia. J Pediatr 2002; 141:426-428.
95. Sen P, Thakur N, Stockton DW, Langston C, Bejjani BA. Expanding the phenotype of alveolar capillary dysplasia (ACD). J Pediatr 2004; 145:646-651.
96. Stankiewicz P, Sen P, Bhatt SS, Storer M, Xia Z, Bejjani BA, Ou Z, Wiszniewska J, Driscoll DJ, Maisenbacher MK, Bolivar J, Bauer M, Zackai EH, McDonald-McGinn D, Nowaczyk MM, Murray M, Hustead V, Mascotti K, Schultz R, Hallam L, McRae D, Nicholson AG, Newbury R, Durham-O'Donnell J, Knight G, Kini U, Shaikh TH, Martin V, Tyreman M, Simonic I, Willatt L, Paterson J, Mehta S, Rajan D, Fitzgerald T, Gribble S, Prigmore E, Patel A, Shaffer LG, Carter NP, Cheung SW, Langston C, Shaw-Smith C. Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations. Am J Hum Genet 2009; 84:780-791.
97. Trapnell BC, Whitsett JA, Nakata K. Pulmonary alveolar proteinosis. N Engl J Med 2003; 349:2527-2539.
98. Nishinakamura R, Nakayama N, Hirabayashi Y, Inoue T, Aud D, McNeil T, Azuma S, Yoshida S, Toyoda Y, Arai K. Mice defi cient for the IL-3/GM-CSF/IL-5 beta c receptor exhibit lung pathology and impaired immune response, while beta IL3 receptor-defi cient mice are normal. Immunity 1995; 2:211-222.
99. Robb L, Drinkwater CC, Metcalf D, Li R, Köntgen F, Nicola NA, Begley CG. Hematopoietic and lung abnormalities in mice with a null mutation of the common beta subunit of the receptors for granulocyte-macrophage colony-stimulating factor and interleukins 3 and 5. Proc Natl Acad Sci USA 1995; 92:9565-9569.
100. Dirksen U, Nishinakamura R, Groneck P, Hattenhorst U, Nogee L, Murray R, Burdach S. Human pulmonary alveolar proteinosis associated with a defect in GM-CSF/IL-3/IL-5 receptor common beta chain expression. J Clin Invest 1997; 100:2211-2217.
101. Suzuki T, Sakagami T, Rubin BK, Nogee LM, Wood RE, Zimmerman SL, Smolarek T, Dishop MK, Wert SE, Whitsett JA, Grabowski G, Carey BC, Stevens C, van der Loo JC, Trapnell BC. Familial pulmonary alveolar proteinosis caused by mutations in CSF2RA. J Exp Med 2008; 205:2703-2710.
102. Martinez-Moczygemba M, Doan ML, Elidemir O, Fan LL, Cheung SW, Lei JT, Moore JP, Tavana G, Lewis LR, Zhu Y, Muzny DM, Gibbs RA, Huston DP. Pulmonary alveolar proteinosis caused by deletion of the GM-CSFRalpha gene in the X chromosome pseudoautosomal region 1. J Exp Med 2008; 205:2711-2716.
103. Sperandeo MP, Bassi MT, Riboni M, Parenti G, Buoninconti A, Manzoni M, Incerti B, Larocca MR, Di Rocco M, Strisciuglio P, Dianzani I, Parini R, Candito M, Endo F, Ballabio A, Andria G, Sebastio G, Borsani G. Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance. Am J Hum Genet 2000; 66:92-99.
104. Borsani G, Bassi MT, Sperandeo MP, De Grandi A, Buoninconti A, Riboni M, Manzoni M, Incerti B, Pepe A, Andria G, Ballabio A, Sebastio G. SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance. Nat Genet 1999; 21:297-301.
105. Di Rocco M. Interstitial lung disease in lysinuric protein intolerance. J Pediatr 1994; 124:655.
106. Kerem E, Elpelg ON, Shalev RS, Rosenman E, Bar Ziv Y, Branski D. Lysinuric protein intolerance with chronic interstitial lung disease and pulmonary cholesterol granulomas at onset. J Pediatr 1993; 123:275-278.
107. Parto K, Svedström E, Majurin ML, Härkönen R, Simell O. Pulmonary manifestations in lysinuric protein intolerance. Chest 1993; 104:1176-1182. (Pubitemid 23306073)
108. Santamaria F, Brancaccio G, Parenti G, Francalanci P, Squitieri C, Sebastio G, Dionisi-Vici C, D'argenio P, Andria G, Parisi F. Recurrent fatal pulmonary alveolar proteinosis after heart-lung transplantation in a child with lysinuric protein intolerance. J Pediatr 2004; 145:268-272.
109. Armanios MY, Chen JJ, Cogan JD, Alder JK, Ingersoll RG, Markin C, Lawson WE, Xie M, Vulto I, Phillips JA 3rd, Lansdorp PM, Greider CW, Loyd JE. Telomerase mutations in families with idiopathic pulmonary fi brosis. N Engl J Med 2007; 356:1317-1326.
110. Wang Y, Kuan PJ, Xing C, Cronkhite JT, Torres F, Rosenblatt RL, DiMaio JM, Kinch LN, Grishin NV, Garcia CK. Genetic defects in surfactant protein A2 are associated with pulmonary fi brosis and lung cancer. Am J Hum Genet 2009; 84:52-59.
111. Cronkhite JT, Xing C, Raghu G, Chin KM, Torres F, Rosenblatt RL, Garcia CK. Telomere shortening in familial and sporadic pulmonary fi brosis. Am J Respir Crit Care Med 2008; 178:729-737.
112. Tsakiri KD, Cronkhite JT, Kuan PJ, Xing C, Raghu G, Weissler JC, Rosenblatt RL, Shay JW, Garcia CK. Adult-onset pulmonary fi brosis caused by mutations in telomerase. Proc Natl Acad Sci USA 2007; 104:7552-7557.