Hereditary pulmonary alveolar proteinosis caused by recessive CSF2RB mutations

European Respiratory Journal

Volumn 37, Issue 1, 2011, Pages 201-204

  Suzuki, T ^a   Maranda, B ^c   Sakagami, T ^a   Catellier, P ^c   Couture, C Y ^d   Carey, B C ^a   Chalk, C ^a   Trapnell, B C ^a,b  

^a CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^b UNIVERSITY OF CINCINNATI COLLEGE OF MEDICINE   (United States)

^c LAVAL UNIVERSITY   (Canada)

^d LAVAL UNIVERSITY   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

CD131 ANTIGEN; MESSENGER RNA; STAT5 PROTEIN;

CASE REPORT; CHILD; COMPUTED TOMOGRAPHIC ANGIOGRAPHY; CONTROLLED STUDY; CYTOLOGY; DYSPNEA; EXON; FEMALE; FLOW CYTOMETRY; GENE SEQUENCE; GENETIC DISORDER; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; LETTER; LUNG ALVEOLUS PROTEINOSIS; LUNG BIOPSY; LUNG LAVAGE; MOLECULAR CLONING; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PNEUMONIA; POINT MUTATION; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PROTEIN PHOSPHORYLATION; RECESSIVE INHERITANCE; SCHOOL CHILD; THORAX RADIOGRAPHY; WESTERN BLOTTING;

BASE SEQUENCE; CHILD; CYTOKINE RECEPTOR COMMON BETA SUBUNIT; DNA MUTATIONAL ANALYSIS; FEMALE; GRANULOCYTE-MACROPHAGE COLONY-STIMULATING FACTOR; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PULMONARY ALVEOLAR PROTEINOSIS;

EID: 79251557456     PISSN: 09031936     EISSN: 13993003     Source Type: Journal    
DOI: 10.1183/09031936.00090610     Document Type: Letter

References (10)

1. Trapnell BC, Whitsett JA, Nakata K. Pulmonary alveolar proteinosis. N Engl J Med 2003; 349: 2527-2539.
2. Trapnell BC, Whitsett JA. Gm-CSF regulates pulmonary surfactant homeostasis and alveolar macrophage-mediated innate host defense. Ann Rev Physiol 2002; 64: 775-802.
3. Hansen G, Hercus TR, McClure BJ, et al. The structure of the GM-CSF receptor complex reveals a distinct mode of cytokine receptor activation. Cell 2008; 134: 496-507.
4. Suzuki T, Sakagami T, Rubin BK, et al. Familial pulmonary alveolar proteinosis caused by mutations in CSF2RA. J Exp Med 2008; 205: 2703-2710.
5. Sakagami T, Beck D, Uchida K, et al. Patient-derived granulocyte/ macrophage colony-stimulating factor autoantibodies reproduce pulmonary alveolar proteinosis in nonhuman primates. Am J Respir Crit Care Med 2010; 182: 49-61.
6. Sakagami T, Uchida K, Suzuki T, et al. Human GM-CSF autoantibodies and reproduction of pulmonary alveolar proteinosis. N Engl J Med 2009; 361: 2679-2681.
7. Suzuki T, Trapnell BC, Young LR, et al. Hereditary pulmonry alveolar proteinosis: pathogenesis, presentation, diagnosis, and therapy. Am J Respir Crit Care Med 2010; [Epub ahead of print DOI: 10.1164/rccm.201002-0271OC].
8. Goodall GJ, Bagley CJ, Vadas MA, et al. A model for the interaction of the GM-CSF, IL-3 and IL-5 receptors with their ligands. Growth Factors 1993; 8: 87-97.
9. Dirksen U, Nishinakamura R, Groneck P, et al. 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. (Pubitemid 27500143)
10. Robb L, Drinkwater CC, Metcalf D, et al. 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.