ArticleAmerican journal of respiratory and critical care medicine2010
Hereditary pulmonary alveolar proteinosis: pathogenesis, presentation, diagnosis, and therapy.
Article in American journal of respiratory and critical care medicine, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02461615 (A National Registry For Pulmonary Alveolar Proteinosis), which is not on this map. Cited by 76 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
A National Registry For Pulmonary Alveolar Proteinosis
Who cites it
76 citing papers in PubMed, 2 syntheses or guidelines pooled it, 178 citations in OpenAlex.
- A Hereditary Pulmonary Alveolar Proteinosis Caused by a Novel Hemizygous Variation of the CSF2RA Gene Case Report and Literature Review.Molecular genetics & genomic medicine · 2025Pooled it
- Sargramostim (rhu GM-CSF) as Cancer Therapy (Systematic Review) and An Immunomodulator. A Drug Before Its Time?Frontiers in immunologyPooled it
- Hereditary pulmonary alveolar proteinosis in a 5-year-old child: Diagnostic insights and therapeutic approach.Radiology case reports · 2025Article
- Evaluating the Use of iPSC-Derived Models in Understanding the Pathogenesis of Childhood Interstitial Lung Disease.Pediatric pulmonology · 2025Review
- The healthcare burden of pulmonary alveolar proteinosis (PAP).Orphanet journal of rare diseases · 2025Article
- Interstitial lung disease in the newborn.Journal of perinatology : official journal of the California Perinatal Association · 2025Review
- Restitutio ad integrum: Rescuing the Alveolar Macrophage Function with HSCT in Pulmonary Alveolar Proteinosis Due to CSF2Rα Deficiency.Journal of clinical immunology · 2024Article
- Clinical approach for pulmonary alveolar proteinosis in children.World journal of clinical cases · 2024Article
- Rare genetic interstitial lung diseases: a pictorial essay.European respiratory review : an official journal of the European Respiratory Society · 2024Review
- Pathogenesis-driven treatment of primary pulmonary alveolar proteinosis.European respiratory review : an official journal of the European Respiratory Society · 2024Review
- A toxicology study ofMolecular therapy. Methods & clinical development · 2024Article
- Article
- Pulmonary Alveolar Proteinosis and new therapeutic concepts.Klinische Padiatrie · 2024Article
- Article
- Human MCTS1-dependent translation of JAK2 is essential for IFN-γ immunity to mycobacteria.Cell · 2023Article
- Article
- A new era of macrophage-based cell therapy.Experimental & molecular medicine · 2023Review
- Progress in Respiratory Gene Therapy.Human gene therapy · 2022Review
- Autoimmune Pulmonary Alveolar Proteinosis.American journal of respiratory and critical care medicine · 2022Article
- Human autoantibodies underlying infectious diseases.The Journal of experimental medicine · 2022Article
16 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
15 authors at 5 institutions in 3 countries.
Funding
Abstract
rationaleWe identified a 6-year-old girl with pulmonary alveolar proteinosis (PAP), impaired granulocyte-macrophage colony-stimulating factor (GM-CSF) receptor function, and increased GM-CSF.
objectivesIncreased serum GM-CSF may be useful to identify individuals with PAP caused by GM-CSF receptor dysfunction.
methodsWe screened 187 patients referred to us for measurement of GM-CSF autoantibodies to diagnose autoimmune PAP. Five were children with PAP and increased serum GM-CSF but without GM-CSF autoantibodies or any disease causing secondary PAP; all were studied with family members, subsequently identified patients, and controls. MEASUREMENT AND MAIN
resultsEight children (seven female, one male) were identified with PAP caused by recessive CSF2RA mutations. Six presented with progressive dyspnea of insidious onset at 4.8 ± 1.6 years and two were asymptomatic at ages 5 and 8 years. Radiologic and histopathologic manifestations were similar to those of autoimmune PAP. Molecular analysis demonstrated that GM-CSF signaling was absent in six and severely reduced in two patients. The GM-CSF receptor β chain was detected in all patients, whereas the α chain was absent in six and abnormal in two, paralleling the GM-CSF signaling defects. Genetic analysis revealed multiple distinct CSF2RA abnormalities, including missense, duplication, frameshift, and nonsense mutations; exon and gene deletion; and cryptic alternative splicing. All symptomatic patients responded well to whole-lung lavage therapy.
conclusionsCSF2RA mutations cause a genetic form of PAP presenting as insidious, progressive dyspnea in children that can be diagnosed by a combination of characteristic radiologic findings and blood tests and treated successfully by whole-lung lavage.
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.