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

被引:12
作者
Tanaka-Kubota, Mari [1 ]
Shinozaki, Koji [2 ]
Miyamoto, Satoshi [1 ]
Yanagimachi, Masakatsu [1 ]
Okano, Tsubasa [1 ]
Mitsuiki, Noriko [1 ]
Ueki, Masahiro [3 ]
Yamada, Masafumi [3 ]
Imai, Kohsuke [4 ]
Takagi, Masatoshi [4 ]
Agematsu, Kazunaga [2 ,5 ]
Kanegane, Hirokazu [1 ]
Morio, Tomohiro [1 ]
机构
[1] Tokyo Med & Dent Univ, Grad Sch Med & Dent Sci, Dept Pediat & Dev Biol, Bunkyo Ku, 1-5-45 Yushima, Tokyo 1138519, Japan
[2] Shinshu Univ, Sch Med, Dept Pediat, Matsumoto, Nagano, Japan
[3] Hokkaido Univ, Dept Pediat, Grad Sch Med, Sapporo, Hokkaido, Japan
[4] Tokyo Med & Dent Univ, Grad Sch Med & Dent Sci, Dept Community Pediat Perinatal & Maternal Med, Tokyo, Japan
[5] Shinshu Univ, Grad Sch Med, Dept Infect & Host Def, Matsumoto, Nagano, Japan
关键词
Pulmonary alveolar proteinosis; Hematopoietic stem cell transplantation; Primary immunodeficiency; Granulocyte-macrophage colony stimulating factor; Bronchoalveolar lavage; GM-CSF; DEFICIENCY; MUTATIONS;
D O I
10.1007/s12185-017-2375-1
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
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.
引用
收藏
页码:610 / 614
页数:5
相关论文
共 25 条
[1]   Hereditary interstitial lung diseases manifesting in early childhood in Japan [J].
Akimoto, Takuma ;
Cho, Kazutoshi ;
Hayasaka, Itaru ;
Morioka, Keita ;
Kaneshi, Yosuke ;
Furuta, Itsuko ;
Yamada, Masafumi ;
Ariga, Tadashi ;
Minakami, Hisanori .
PEDIATRIC RESEARCH, 2014, 76 (05) :453-458
[2]   Surfactant proteins in pulmonary alveolar proteinosis in adults [J].
Brasch, F ;
Birzele, J ;
Ochs, M ;
Guttentag, SH ;
Schoch, OD ;
Boehler, A ;
Beers, MF ;
Müller, KM ;
Hawgood, S ;
Johnen, G .
EUROPEAN RESPIRATORY JOURNAL, 2004, 24 (03) :426-435
[3]   Whole lung lavage therapy for pulmonary alveolar proteinosis: a global survey of current practices and procedures [J].
Campo, Ilaria ;
Luisetti, Maurizio ;
Griese, Matthias ;
Trapnell, Bruce C. ;
Bonella, Francesco ;
Grutters, Jan ;
Nakata, Koh ;
Van Moorsel, Coline H. M. ;
Costabel, Ulrich ;
Cottin, Vincent ;
Ichiwata, Toshio ;
Inoue, Yoshikazu ;
Braschi, Antonio ;
Bonizzoni, Giacomo ;
Iotti, Giorgio A. ;
Tinelli, Carmine ;
Rodi, Giuseppe .
ORPHANET JOURNAL OF RARE DISEASES, 2016, 11
[4]   Human pulmonary alveolar proteinosis associated with a defect in GM-CSF/IL-3/IL-5 receptor common beta chain expression [J].
Dirksen, U ;
Nishinakamura, R ;
Groneck, P ;
Hattenhorst, U ;
Nogee, L ;
Murray, R ;
Burdach, S .
JOURNAL OF CLINICAL INVESTIGATION, 1997, 100 (09) :2211-2217
[5]   INVOLVEMENT OF GRANULOCYTE-MACROPHAGE COLONY-STIMULATING FACTOR IN PULMONARY HOMEOSTASIS [J].
DRANOFF, G ;
CRAWFORD, AD ;
SADELAIN, M ;
REAM, B ;
RASHID, A ;
BRONSON, RT ;
DICKERSIN, GR ;
BACHURSKI, CJ ;
MARK, EL ;
WHITSETT, JA ;
MULLIGAN, RC .
SCIENCE, 1994, 264 (5159) :713-716
[6]   Successful cord blood transplantation for myelodysplastic syndrome resulting in resolution of pulmonary alveolar proteinosis [J].
Fukuno, K. ;
Tomonari, A. ;
Tsukada, N. ;
Takahashi, S. ;
Ooi, J. ;
Konuma, T. ;
Uchiyama, M. ;
Fujii, T. ;
Endo, T. ;
Iwamoto, A. ;
Oyaizu, N. ;
Nakata, K. ;
Moriwaki, H. ;
Tojo, A. ;
Ansano, S. .
BONE MARROW TRANSPLANTATION, 2006, 38 (08) :581-582
[7]   GATA2 deficiency in children and adults with severe pulmonary alveolar proteinosis and hematologic disorders [J].
Griese, Matthias ;
Zarbock, Ralf ;
Costabel, Ulrich ;
Hildebrandt, Jenna ;
Theegarten, Dirk ;
Albert, Michael ;
Thiel, Antonia ;
Schams, Andrea ;
Lange, Joanna ;
Krenke, Katazyrna ;
Wesselak, Traudl ;
Schoen, Carola ;
Kappler, Matthias ;
Blum, Helmut ;
Krebs, Stefan ;
Jung, Andreas ;
Kroener, Carolin ;
Klein, Christoph ;
Campo, Ilaria ;
Luisetti, Maurizio ;
Bonella, Francesco .
BMC PULMONARY MEDICINE, 2015, 15
[8]   Pulmonary alveolar proteinosis in patients with adenosine deaminase deficiency [J].
Grunebaum, Eyal ;
Cutz, Ernest ;
Roifman, Chaim M. .
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2012, 129 (06) :1588-1593
[9]   Pulmonary transplantation of macrophage progenitors as effective and long-lasting therapy for hereditary pulmonary alveolar proteinosis [J].
Happle, Christine ;
Lachmann, Nico ;
Skuljec, Jelena ;
Wetzke, Martin ;
Ackermann, Mania ;
Brennig, Sebastian ;
Mucci, Adele ;
Jirmo, Adan Chari ;
Groos, Stephanie ;
Mirenska, Anja ;
Hennig, Christina ;
Rodt, Thomas ;
Bankstahl, Jens P. ;
Schwerk, Nicolaus ;
Moritz, Thomas ;
Hansen, Gesine .
SCIENCE TRANSLATIONAL MEDICINE, 2014, 6 (250)
[10]   Characterization of CSF2RA mutation related juvenile pulmonary alveolar proteinosis [J].
Hildebrandt, Jenna ;
Yalcin, Ebru ;
Bresser, Hans-Georg ;
Cinel, Guzin ;
Gappa, Monika ;
Haghighi, Alireza ;
Kiper, Nural ;
Khalilzadeh, Soheila ;
Reiter, Karl ;
Sayer, John ;
Schwerk, Nicolaus ;
Sibbersen, Anke ;
Van Daele, Sabine ;
Nubling, Georg ;
Lohse, Peter ;
Griese, Matthias .
ORPHANET JOURNAL OF RARE DISEASES, 2014, 9 :171