Hereditary pulmonary alveolar proteinosis caused by recessive<i>CSF2RB</i>mutations

Suzuki, Takuji; Maranda, Bruno; Sakagami, Takuro; Catellier, Priscilla; Cy, Couture; Bc, Carey; Chalk, Claudia; Bc, Trapnell

doi:10.1183/09031936.00090610

Cited by 120 publications

(93 citation statements)

References 11 publications

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“…Mutation of CSF2RB was suggested in three patients presenting neonatal PAP and was recently confirmed in a 36-yr-old female and a 9-yr-old girl [8,82,83]. Both showed disease close to auto-immune PAP without detectable anti-GM-CSF antibodies but with high concentration of GM-CSF [8].…”

Section: Genetic Defects In the Gm-csf Receptormentioning

confidence: 99%

Pulmonary alveolar proteinosis

Borie¹,

Danel²,

Mp³

et al. 2011

Eur Respir Rev

244

258

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Pulmonary alveolar proteinosis (PAP) is a rare pulmonary disease characterised by alveolar accumulation of surfactant. It may result from mutations in surfactant proteins or granulocyte macrophage-colony stimulating factor (GM-CSF) receptor genes, it may be secondary to toxic inhalation or haematological disorders, or it may be auto-immune, with anti-GM-CSF antibodies blocking activation of alveolar macrophages. Auto-immune alveolar proteinosis is the most frequent form of PAP, representing 90% of cases. Although not specific, high-resolution computed tomography shows a characteristic ''crazy paving'' pattern. In most cases, bronchoalveolar lavage findings establish the diagnosis. Whole lung lavage is the most effective therapy, especially for auto-immune disease. Novel therapies targeting alveolar macrophages (recombinant GM-CSF therapy) or anti-GM-CSF antibodies (rituximab and plasmapheresis) are being investigated. Our knowledge of the pathophysiology of PAP has improved in the past 20 yrs, but therapy for PAP still needs improvement.

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Section: Genetic Defects In the Gm-csf Receptormentioning

confidence: 99%

Pulmonary alveolar proteinosis

Borie¹,

Danel²,

Mp³

et al. 2011

Eur Respir Rev

244

258

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“…This recommendation is based upon six case reports of patients with chILD syndrome who had lung pathology findings similar to those observed in adults with alveolar proteinosis due to autoimmune disease. The patients had circulating neutralizing antibodies to GM-CSF, mutations in the genes encoding the a or b subunits of GM-CSF receptor (CSF2RA or CSF2RB) (91,92,(178)(179)(180)(181), and elevated circulating GM-CSF levels (180). The recommendation reflects our judgment that the benefits of identifying a mutation in CSF2RA or CSF2RB plus elevated circulating GM-CSF levels testing (i.e., understanding more about the disease, the potential for avoiding lung biopsy, or the possibility of obtaining information that will be of importance to the family) justify the cost of genetic testing (Table E1).…”

Section: Age-specific Considerations: Infants With Slowly Progressivementioning

confidence: 99%

An Official American Thoracic Society Clinical Practice Guideline: Classification, Evaluation, and Management of Childhood Interstitial Lung Disease in Infancy

Kurland¹,

Deterding²,

Hagood³

et al. 2013

Am J Respir Crit Care Med

396

499

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“…This means that the latter represents only a very small percentage of all human PAP cases described (Briens et al 2002;Inoue et al 2008;Ishii et al 2011). (c) In rare cases, inherited genetic defects are present as a result of recessive mutations in the receptors of the GM-CSF effects (Suzuki et al 2011).…”

Section: Introductionmentioning

confidence: 99%

Particle-induced Pulmonary Alveolar Proteinosis and Subsequent Inflammation and Fibrosis: A Toxicologic and Pathologic Review

Bomhard¹

2017

Toxicol Pathol

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This review analyzes the published data on cases of pulmonary alveolar proteinosis (PAP) in workers inhaling crystalline aluminum, indium, silicon, and titanium particles and possible sequelae, that is, inflammation and fibrosis, and compares these findings with those from animal experiments. In inhalation studies in rodents using crystalline indium and gallium compounds, pronounced PAP followed by inflammation and fibrosis down to very low concentration ranges have been reported. Crystalline aluminum, silicon, and titanium compounds also induced comparable pulmonary changes in animals, though at higher exposure levels. Laboratory animal species appear to react to the induction of PAP with varying degrees of sensitivity. The sensitivity of humans to environmental causes of PAP seems to be relatively low. Up to now, no cases of PAP, or other pulmonary diseases in humans, have been described for gallium compounds. However, a hazard potential can be assumed based on the results of animal studies. Specific particle properties, responsible for the induction of PAP and its sequelae, have not been identified. This review provides indications that, both in animal studies and in humans, PAP is not often recognized due to the absence of properly directed investigation or is concealed behind other forms of lung pathology.

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Hereditary pulmonary alveolar proteinosis caused by recessiveCSF2RBmutations

Cited by 120 publications

References 11 publications

Pulmonary alveolar proteinosis

Pulmonary alveolar proteinosis

An Official American Thoracic Society Clinical Practice Guideline: Classification, Evaluation, and Management of Childhood Interstitial Lung Disease in Infancy

Particle-induced Pulmonary Alveolar Proteinosis and Subsequent Inflammation and Fibrosis: A Toxicologic and Pathologic Review

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