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Erschienen in: International Journal of Hematology 5/2018

28.11.2017 | Case Report

Hematopoietic stem cell transplantation for pulmonary alveolar proteinosis associated with primary immunodeficiency disease

verfasst von: Mari Tanaka-Kubota, Koji Shinozaki, Satoshi Miyamoto, Masakatsu Yanagimachi, Tsubasa Okano, Noriko Mitsuiki, Masahiro Ueki, Masafumi Yamada, Kohsuke Imai, Masatoshi Takagi, Kazunaga Agematsu, Hirokazu Kanegane, Tomohiro Morio

Erschienen in: International Journal of Hematology | Ausgabe 5/2018

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Abstract

Pulmonary alveolar proteinosis (PAP) is a rare disorder that is characterized by the excessive accumulation of surfactant-like materials in the alveoli, leading to hypoxemic respiratory failure. We describe two Japanese infants with PAP associated with hypogammaglobulinemia and monocytopenia. These patients may have underlying primary immunodeficiency (PID) and were successfully treated with allogeneic hematopoietic stem cell transplantation (HSCT). This report indicates that allogeneic HSCT may provide a curative treatment for PAP associated with PID.
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Literatur
1.
Zurück zum Zitat Rosen SH, Casleman B, Liebow AA. Pulmonary alveolar proteinosis. N Engl J Med. 1958;258:1123–42.CrossRefPubMed Rosen SH, Casleman B, Liebow AA. Pulmonary alveolar proteinosis. N Engl J Med. 1958;258:1123–42.CrossRefPubMed
2.
Zurück zum Zitat Trapnell BC, Whitsett JA, Nakata K. Pulmonary alveolar proteinosis. N Engl J Med. 2003;349:2527–37.CrossRefPubMed Trapnell BC, Whitsett JA, Nakata K. Pulmonary alveolar proteinosis. N Engl J Med. 2003;349:2527–37.CrossRefPubMed
3.
Zurück zum Zitat Lin FC, Chang GD, Chern MS, Chen YC, Chang SC. Clinical significance of anti-GM-CSF antibodies in idiopathic pulmonary alveolar proteinosis. Thorax. 2006;61:528–34.CrossRefPubMedPubMedCentral Lin FC, Chang GD, Chern MS, Chen YC, Chang SC. Clinical significance of anti-GM-CSF antibodies in idiopathic pulmonary alveolar proteinosis. Thorax. 2006;61:528–34.CrossRefPubMedPubMedCentral
4.
Zurück zum Zitat Grunebaum E, Cutx E, Roifman CM. Pulmonary alveolar proteinosis in patients with adenosine deaminase deficiency. J Allergy Clin Immunol. 2012;129:1588–93.CrossRefPubMed Grunebaum E, Cutx E, Roifman CM. Pulmonary alveolar proteinosis in patients with adenosine deaminase deficiency. J Allergy Clin Immunol. 2012;129:1588–93.CrossRefPubMed
5.
Zurück zum Zitat Raj D, Bhutia TD, Mathur S, Kabra SK, Lodha R. Pulmonary alveolar proteinosis secondary to Pneumocystis jiroveci infection in an infant with common variable immunodeficiency. Indian J Pediatr. 2014;81:929–31.CrossRefPubMed Raj D, Bhutia TD, Mathur S, Kabra SK, Lodha R. Pulmonary alveolar proteinosis secondary to Pneumocystis jiroveci infection in an infant with common variable immunodeficiency. Indian J Pediatr. 2014;81:929–31.CrossRefPubMed
6.
Zurück zum Zitat Griese M, Zarbock R, Costabel U, Hildebrandt J, Theegarten D, Albert M, et al. GATA2 deficiency in children and adults with severe pulmonary alveolar proteinosis and hematologic disorders. BMC Pulm Med. 2015;15:87.CrossRefPubMedPubMedCentral Griese M, Zarbock R, Costabel U, Hildebrandt J, Theegarten D, Albert M, et al. GATA2 deficiency in children and adults with severe pulmonary alveolar proteinosis and hematologic disorders. BMC Pulm Med. 2015;15:87.CrossRefPubMedPubMedCentral
7.
Zurück zum Zitat Dranoff G, Crawford AD, Sadelain M, Reem B, Rashid A, Bronson RT, et al. Involvement of granulocyte–macrophage colony-stimulating factor in pulmonary homeostasis. Science. 1994;264:713–6.CrossRefPubMed Dranoff G, Crawford AD, Sadelain M, Reem B, Rashid A, Bronson RT, et al. Involvement of granulocyte–macrophage colony-stimulating factor in pulmonary homeostasis. Science. 1994;264:713–6.CrossRefPubMed
8.
Zurück zum Zitat Uchida K, Beck DC, Yamamato T, Berclaz PY, Abe S, Staudt MK, et al. GM-CSF autoantibodies and neutrophil dysfunction in pulmonary alveolar proteinosis. N Engl J Med. 2007;356:567–79.CrossRefPubMed Uchida K, Beck DC, Yamamato T, Berclaz PY, Abe S, Staudt MK, et al. GM-CSF autoantibodies and neutrophil dysfunction in pulmonary alveolar proteinosis. N Engl J Med. 2007;356:567–79.CrossRefPubMed
9.
Zurück zum Zitat Suzuki T, Sakagami T, Young LR, Carey BC, Wood RE, Luisetti M, et al. Hereditary pulmonary alveolar proteinosis: pathogenesis, presentation, diagnosis, and therapy. Am J Respir Crit Care Med. 2010;182:1292–304.CrossRefPubMedPubMedCentral Suzuki T, Sakagami T, Young LR, Carey BC, Wood RE, Luisetti M, et al. Hereditary pulmonary alveolar proteinosis: pathogenesis, presentation, diagnosis, and therapy. Am J Respir Crit Care Med. 2010;182:1292–304.CrossRefPubMedPubMedCentral
10.
Zurück zum Zitat Spock A. Long-term survival of paediatric patients with pulmonary alveolar proteinosis treated with lung lavage. Eur Respir J. 2005;25:1127.CrossRefPubMed Spock A. Long-term survival of paediatric patients with pulmonary alveolar proteinosis treated with lung lavage. Eur Respir J. 2005;25:1127.CrossRefPubMed
11.
Zurück zum Zitat Hildebrandt J, Yalcin E, Bresser HG, Cinel G, Gappa M, Haghighi A, et al. Characterization of CSF2RA mutation related juvenile pulmonary alveolar proteinosis. Orphanet J Rare Dis. 2014;9:171.CrossRefPubMedPubMedCentral Hildebrandt J, Yalcin E, Bresser HG, Cinel G, Gappa M, Haghighi A, et al. Characterization of CSF2RA mutation related juvenile pulmonary alveolar proteinosis. Orphanet J Rare Dis. 2014;9:171.CrossRefPubMedPubMedCentral
12.
Zurück zum Zitat Tabata S, Shimoji S, Murase K, Takiuchi Y, Inoue D, Kimura T, et al. Successful allogeneic bone marrow transplantation for myelodysplastic syndrome complicated by severe pulmonary alveolar proteinosis. Int J Hematol. 2009;90:407–12.CrossRefPubMed Tabata S, Shimoji S, Murase K, Takiuchi Y, Inoue D, Kimura T, et al. Successful allogeneic bone marrow transplantation for myelodysplastic syndrome complicated by severe pulmonary alveolar proteinosis. Int J Hematol. 2009;90:407–12.CrossRefPubMed
13.
Zurück zum Zitat Fukuno K, Tomonari A, Tsukada N, Takahashi S, Ooi J, Konuma T, et al. Successful cord blood transplantation for myelodysplastic syndrome resulting in resolution of pulmonary alveolar proteinosis. Bone Marrow Transplant. 2006;38:581–2.CrossRefPubMed Fukuno K, Tomonari A, Tsukada N, Takahashi S, Ooi J, Konuma T, et al. Successful cord blood transplantation for myelodysplastic syndrome resulting in resolution of pulmonary alveolar proteinosis. Bone Marrow Transplant. 2006;38:581–2.CrossRefPubMed
14.
Zurück zum Zitat Happle C, Lachmann N, Škuljec J, Wetzke M, Ackermann M, Brennig S, et al. Pulmonary transplantation of macrophage progenitors as effective and long-lasting therapy for hereditary pulmonary alveolar proteinosis. Sci Transl Med. 2014;6:250ra113.CrossRefPubMed Happle C, Lachmann N, Škuljec J, Wetzke M, Ackermann M, Brennig S, et al. Pulmonary transplantation of macrophage progenitors as effective and long-lasting therapy for hereditary pulmonary alveolar proteinosis. Sci Transl Med. 2014;6:250ra113.CrossRefPubMed
15.
Zurück zum Zitat Brasch F, Birzele J, Ochs M, Guttentag SH, Schoch OD, Boehler A, et al. Surfactant proteins in pulmonary alveolar proteinosis in adults. Eur Respir J. 2004;24:426–35.CrossRefPubMed Brasch F, Birzele J, Ochs M, Guttentag SH, Schoch OD, Boehler A, et al. Surfactant proteins in pulmonary alveolar proteinosis in adults. Eur Respir J. 2004;24:426–35.CrossRefPubMed
16.
Zurück zum Zitat Schoch OD, Schanz U, Koller M, Nakata K, Seymour JF, Russi EW, et al. BAL findings in a patient with pulmonary alveolar proteinosis successfully treated with GM-SCF. Thorax. 2002;57:277–80.CrossRefPubMedPubMedCentral Schoch OD, Schanz U, Koller M, Nakata K, Seymour JF, Russi EW, et al. BAL findings in a patient with pulmonary alveolar proteinosis successfully treated with GM-SCF. Thorax. 2002;57:277–80.CrossRefPubMedPubMedCentral
17.
Zurück zum Zitat Nogee LM, de Mello DE, Dehner LP, Colten HR. Brief report: deficiency of pulmonary surfactant protein B in congenial alveolar proteinosis. N Engl J Med. 1993;328:406–10.CrossRefPubMed Nogee LM, de Mello DE, Dehner LP, Colten HR. Brief report: deficiency of pulmonary surfactant protein B in congenial alveolar proteinosis. N Engl J Med. 1993;328:406–10.CrossRefPubMed
18.
Zurück zum Zitat 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;344:573–9.CrossRefPubMed 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;344:573–9.CrossRefPubMed
19.
Zurück zum Zitat Shulenin S, Nogee LM, Annilo T, Wert SE, Whitsett JA, Dean M. ABCA3 gene mutations in newborns with fatal surfactant deficiency. N Engl J Med. 2004;350:1296–303.CrossRefPubMed Shulenin S, Nogee LM, Annilo T, Wert SE, Whitsett JA, Dean M. ABCA3 gene mutations in newborns with fatal surfactant deficiency. N Engl J Med. 2004;350:1296–303.CrossRefPubMed
20.
Zurück zum Zitat Akimoto T, Cho K, Hayasaka I, Morioka K, Kaneshi Y, Furuta I, et al. Hereditary interstitial lung disease manifested by early childhood in Japan. Pediatr Res. 2014;76:453–8.CrossRefPubMed Akimoto T, Cho K, Hayasaka I, Morioka K, Kaneshi Y, Furuta I, et al. Hereditary interstitial lung disease manifested by early childhood in Japan. Pediatr Res. 2014;76:453–8.CrossRefPubMed
21.
Zurück zum Zitat Dirksen U, Nishinakamura R, Gronexk P, Hattenhorst U, Nogee L, Murray R, et al. Human pulmonary alveolar proteinosis associated with a defect in GM-CSF/IL-3/IL-5 receptor common beta chain expression. J Clin Investig. 1997;100:2211–7.CrossRefPubMedPubMedCentral Dirksen U, Nishinakamura R, Gronexk P, Hattenhorst U, Nogee L, Murray R, et al. Human pulmonary alveolar proteinosis associated with a defect in GM-CSF/IL-3/IL-5 receptor common beta chain expression. J Clin Investig. 1997;100:2211–7.CrossRefPubMedPubMedCentral
22.
Zurück zum Zitat Suzuki T, Sakagami T, Rubin BK, Nogee LM, Wood RE, Zimmerman SL, et al. Familial pulmonary alveolar proteinosis caused by mutations in CSF2RA. J Exp Med. 2008;205:2703–10.CrossRefPubMedPubMedCentral Suzuki T, Sakagami T, Rubin BK, Nogee LM, Wood RE, Zimmerman SL, et al. Familial pulmonary alveolar proteinosis caused by mutations in CSF2RA. J Exp Med. 2008;205:2703–10.CrossRefPubMedPubMedCentral
24.
Zurück zum Zitat 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.CrossRefPubMed 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.CrossRefPubMed
25.
Zurück zum Zitat Campo I, Luisetti M, Griese M, Trapnell BC, Bonella F, Grutters J, et al. Whole lung lavage therapy for pulmonary alveolar proteinosis: a global survey of current practices and procedures. Orphanet J Rare Dis. 2016;11:115.CrossRefPubMedPubMedCentral Campo I, Luisetti M, Griese M, Trapnell BC, Bonella F, Grutters J, et al. Whole lung lavage therapy for pulmonary alveolar proteinosis: a global survey of current practices and procedures. Orphanet J Rare Dis. 2016;11:115.CrossRefPubMedPubMedCentral
Metadaten
Titel
Hematopoietic stem cell transplantation for pulmonary alveolar proteinosis associated with primary immunodeficiency disease
verfasst von
Mari Tanaka-Kubota
Koji Shinozaki
Satoshi Miyamoto
Masakatsu Yanagimachi
Tsubasa Okano
Noriko Mitsuiki
Masahiro Ueki
Masafumi Yamada
Kohsuke Imai
Masatoshi Takagi
Kazunaga Agematsu
Hirokazu Kanegane
Tomohiro Morio
Publikationsdatum
28.11.2017
Verlag
Springer Japan
Erschienen in
International Journal of Hematology / Ausgabe 5/2018
Print ISSN: 0925-5710
Elektronische ISSN: 1865-3774
DOI
https://doi.org/10.1007/s12185-017-2375-1

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