Elderly-onset hereditary pulmonary alveolar proteinosis and its cytokine profile

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Elderly-onset hereditary pulmonary alveolar proteinosis and its cytokine profile

BACKGROUND Pulmonary alveolar proteinosis (PAP) is a rare lung disease characterized by surfactant accumulation, and is caused by disruption of granulocyte/macrophage colony-stimulating factor (GM-CSF) signaling. Abnormalities in CSF2 receptor alpha (CSF2RA) were reported to cause pediatric hereditary PAP. We report here the first case of CSF2RA-mutated, elderly-onset hereditary (h) PAP. CASE...

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Adult-onset hereditary pulmonary alveolar proteinosis caused by a single-base deletion in CSF2RB.

BACKGROUND Disruption of granulocyte/macrophage colony-stimulating factor (GM-CSF) signalling causes pulmonary alveolar proteinosis (PAP). Rarely, genetic defects in neonatal or infant-onset PAP have been identified in CSF2RA. However, no report has clearly identified any function-associated genetic defect in CSF2RB. METHODS AND RESULTS The patient was diagnosed with PAP at the age of 36 and ...

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Hereditary pulmonary alveolar proteinosis caused by recessive CSF2RB mutations.

Pulmonary alveolar proteinosis (PAP) is a syndrome characterised by accumulation of surfactant in alveoli resulting in respiratory insufficiency [1]. Surfactant homeostasis is critical for lung function and is tightly regulated, in part, by pulmonary granulocyte-macrophage colony-stimulating factor (GM-CSF), which is required for surfactant clearance by alveolar macrophages [2] and alveolar mac...

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Pulmonary Alveolar Proteinosis

s since January 1975, a full-text search capacity, and a personal archive for saving articles and search results of interest. All articles can be printed in a format that is virtually identical to that of the typeset pages. Beginning six months after publication, the full text of all Original Articles and Special Articles is available free to nonsubscribers who have completed a brief registrati...

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Pulmonary alveolar proteinosis.

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 alv...

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ژورنال

عنوان ژورنال: BMC Pulmonary Medicine

سال: 2017

ISSN: 1471-2466

DOI: 10.1186/s12890-017-0382-x