Pulmonary alveolar proteinosis caused by deletion of the GM-CSFRα gene in the X chromosome pseudoautosomal region 1

Journal of Experimental Medicine

Volumn 205, Issue 12, 2008, Pages 2711-2716

  Martinez Moczygemba, Margarita ^a,b   Doan, Minh L ^c   Elidemir, Okan ^c   Fan, Leland L ^c   Cheung, Sau Wai ^c   Lei, Jonathan T ^a   Moore, James P ^a   Tavana, Ghamartaj ^a   Lewis, Lora R ^c   Zhu, Yiming ^c   Muzny, Donna M ^c   Gibbs, Richard A ^c   Huston, David P ^a,b  

^a TEXAS A AND M HEALTH SCIENCE CENTER   (United States)

^b TEXAS A M COLLEGE OF MEDICINE   (United States)

^c BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GRANULOCYTE MACROPHAGE COLONY STIMULATING FACTOR; GRANULOCYTE MACROPHAGE COLONY STIMULATING FACTOR RECEPTOR; GRANULOCYTE MACROPHAGE COLONY STIMULATING FACTOR RECEPTOR ALPHA; UNCLASSIFIED DRUG; CD11B ANTIGEN; CSF2RA PROTEIN, HUMAN; LUNG SURFACTANT;

ARTICLE; CASE REPORT; CHILD; EXON; FEMALE; GENE DELETION; GENE EXPRESSION; GENE FUNCTION; GENE MUTATION; GENETIC DISORDER; GENETIC TRANSCRIPTION; GENOMICS; HUMAN; HUMAN CELL; LUNG ALVEOLUS PROTEINOSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; X CHROMOSOME; ANIMAL; CYTOLOGY; FLUORESCENCE IN SITU HYBRIDIZATION; GENETICS; GENOTYPE; KARYOTYPING; MALE; METABOLISM; MONOCYTE; MOUSE; PHYSIOLOGY; SIGNAL TRANSDUCTION; TURNER SYNDROME;

ANIMALS; ANTIGENS, CD11B; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, X; EXONS; FEMALE; GENOTYPE; GRANULOCYTE-MACROPHAGE COLONY-STIMULATING FACTOR; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MALE; MICE; MONOCYTES; PULMONARY ALVEOLAR PROTEINOSIS; PULMONARY SURFACTANTS; RECEPTORS, GRANULOCYTE-MACROPHAGE COLONY-STIMULATING FACTOR; SIGNAL TRANSDUCTION; TURNER SYNDROME;

EID: 58149316253     PISSN: 00221007     EISSN: 15409538     Source Type: Journal    
DOI: 10.1084/jem.20080759     Document Type: Article

References (29)

1. Trapnell, B.C., J.A. Whitsett, and K. Nakata. 2003. Pulmonary alveolar proteinosis. N. Engl. J. Med. 349:2527-2539.
2. Hamvas, A., F.S. Cole, and L.M. Nogee. 2007. Genetic disorders of surfactant proteins. Neonatology. 91:311-317.
3. Nogee, L.M., A.E. Dunbar III, S.E. Wert, F. Askin, A. Hamvas, and J.A. Whitsett. 2001. A mutation in the surfactant protein C gene associated with familial interstitial lung disease. N. Engl. J. Med. 344:573-579.
4. Nogee, L.M., G. Garnier, H.C. Dietz, L. Singer, A.M. Murphy, D.E. deMello, and H.R. Colton. 1994. A mutation in the surfactant protein B gene responsible for fatal neonatal respiratory disease in multiple kindreds. J. Clin. Invest. 93:1860-1863.
5. Nogee, L.M., D.E. deMello, L.P. Dehner, and H.R. Colten. 1993. Deficiency of pulmonary surfactant protein B in congenital alveolar proteinosis. N. Engl. J. Med. 328:406-410.
6. Dirksen, U., R. Nishinakamura, P. Groneck, U. Hattenhorst, L. Nogee, R. Murray, and S. Burdach. 1997. Human pulmonary alveolar pro- teinosis associated with a defect in GM-CSF/IL-3/IL-5 receptor common beta chain expression. J. Clin. Invest. 100:2211-2217.
7. Rubin, E., G.L. Weisbrod, and D.E. Sanders. 1980. Pulmonary alveolar proteinosis: relationship to silicosis and pulmonary infection. Radiology. 135:35-41.
8. Ruben, F.L., and T.S. Talamo. 1986. Secondary pulmonary alveolar proteinosis occurring in two patients with acquired immune deficiency syndrome. Am. J. Med. 80:1187-1190.
9. Abdul Rahman, J.A., U.P. Moodley, and M.J. Phillips. 2004. Pulmonary alveolar proteinosis associated with psoriasis and complicated by myco- bacterial infection: successful treatment with granulocyte-macrophage colony stimulating factor after a partial response to whole lung lavage. Respirology. 9:419-422.
10. Cordonnier, C., J. Fleury-Feith, E. Escudier, K. Atassi, and J.F. Bernaudin. 1994. Secondary alveolar proteinosis is a reversible cause of respiratory failure in leukemic patients. Am. J. Respir. Crit. Care Med. 149:788-794.
11. Dirksen, U., U. Hattenhorst, P. Schneider, H. Schroten, U. Göbel, A. Böcking, K.M. Müller, R. Murray, and S. Burdach. 1998. 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. 92:1097-1103.
12. Kitamura, T., N. Tanaka, J. Watanabe, K. Uchida, S. Kanegasaki, Y. Yamada, and K. Nakata. 1999. Idiopathic pulmonary alveolar proteinosis as an autoimmune disease with neutralizing antibody against granulo- cyte/macrophage colony-stimulating factor. J. Exp. Med. 190:875-880.
13. Bonfield, T.L., D. Russell, S. Burgess, A. Malur, M.S. Kavuru, and M.J. Thomassen. 2002. Autoantibodies against granulocyte macrophage colony-stimulating factor are diagnostic for pulmonary alveolar proteinosis. Am. J. Respir. Cell Mol. Biol. 27:481-486.
14. Uchida, K., K. Nakata, B.C. Trapnell, T. Terakawa, E. Hamano, A. Mikami, I. Matsushita, J.F. Seymour, M. Oh-Eda, I. Ishige, et al. 2004. High-affinity autoantibodies specifically eliminate granulocyte-macro- phage colony-stimulating factor activity in the lungs of patients with idiopathic pulmonary alveolar proteinosis. Blood. 103:1089-1098.
15. Stanley, E., G.J. Lieschke, D. Grail, D. Metcalf, G. Hodgson, J.A.M. Gall, D.W. Maher, J. Cebon, V. Sinickas, and A.R. Dunn. 1994. Granulocyte/macrophage colony-stimulating factor-deficient mice show no major perturbation of hematopoiesis but develop a characteristic pulmonary pathology. Proc. Natl. Acad. Sci. USA. 91:5592-5596.
16. Robb, L., C. Drinkwater, D. Metcalf, R. Li, F. Kontgen, N.A. Nicola, and C.G. Begley. 1995. 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. 92:9565-9569.
17. il-3 receptor-deficient mice are normal. Immunity. 2:211-222.
18. Zsengeller, Z.K., J.A. Reed, C.J. Bachurski, A.M. LeVine, S. Forry- Schaudies, R. Hirsh, and J.A. Whitsett. 1998. Adenovirus-mediated gran- ulocyte-macrophage colony-stimulating factor improves lung pathology of pulmonary alveolar proteinosis in granulocyte-macrophage colony- stimulating factor-deficient mice. Hum. Gene Ther. 9:2101-2109.
19. Nishinakamura, R., R. Wiler, U. Dirksen, Y. Morikawa, K. Arai, A. Miyajima, S. Burdach, and R. Murray. 1996. The pulmonary alveolar proteinosis in granulocyte macrophage colony-stimulating factor/inter- leukins 3/5 beta c receptor-deficient mice is reversed by bone marrow transplantation. J. Exp. Med. 183:2657-2662.
20. Venkateshiah, S.B., T.D. Yan, T.L. Bonfield, M.J. Thomassen, M. Meziane, C. Czich, and M.S. Kavuru. 2006. An open-label trial of granulocyte macrophage colony stimulating factor therapy for moderate symptomatic pulmonary alveolar proteinosis. Chest. 130:227-237.
21. Gearing, D.P., J.A. King, N.M. Gough, and N.A. Nicola. 1989. Expression cloning of a receptor for human granulocyte-macrophage colony-stimulating factor. EMBO J. 8:3667-3676.
22. Hayashida, K., T. Kitamura, D.M. Gorman, K. Arai, T. Yokota, and A. Miyajima. 1990. Molecular cloning of a second subunit of the receptor for human granulocyte-macrophage colony-stimulating factor (GM- CSF): reconstitution of a high-affinity GM-CSF receptor. Proc. Natl. Acad. Sci. USA. 87:9655-9659.
23. Jubinsky, P.T., A.S. Laurie, D.G. Nathan, J. Yetz-Aldepe, and C.A. Sieff. 1994. Expression and function of the human granulocyte-macrophage colony-stimulating factor receptor alpha subunit. Blood. 84:4174-4185.
24. Martinez-Moczygemba, M., and D.P. Huston. 2003. Biology of common beta receptor-signaling cytokines: IL-3, IL-5, and GM-CSF. J. Allergy Clin. Immunol. 112:653-665.
25. Uchida, K., D.C. Beck, T. Yamamoto, P.Y. Berclaz, S. Abe, M.K. Staudt, B.C. Carey, M.D. Filippi, S.E. Wert, and L.A. Denson. 2007. GM-CSF autoantibodies and neutrophil dysfunction in pulmonary alveolar proteinosis. N. Engl. J. Med. 356:567-579.
26. Kremer, E., E. Baker, R.J. D'Andrea, R. Slim, H. Phillips, P.A. Moretti, A.F. Lopez, C. Petit, M.A. Vadas, G.R. Sutherland, et al. 1993. A cytkine receptor gene cluster in the X-Y pseudoautosomal region? Blood. 82:22-28.
27. Sagi, L., N. Zuckerman-Levin, A. Gawlik, L. Ghizzoni, A. Buyukgebiz, Y. Rakover, T. Bistritzer, O. Admoni, A. Vottero, O. Baruch, et al. 2007. Clinical significance of the parental origin of the X chromosome in turner syndrome. J. Clin. Endocrinol. Metab. 92:846-852.
28. Blaschke, R.J., and G. Rappold. 2006. The pseudoautosomal regions, SHOX and disease. Curr. Opin. Genet. Dev. 16:233-239.
29. Trask, B.J. 1991. Fluorescence in situ hybridization: applications in cy- togenetics and gene mapping. Trends Genet. 7:149-154.