ArticleOrphanet journal of rare diseases2014
Characterization of CSF2RA mutation related juvenile pulmonary alveolar proteinosis.
Article in Orphanet journal of rare diseases, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
31 citing papers in PubMed, 1 synthesis or guideline pooled it, 65 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
- The dark side of pulmonary alveolar proteinosis.Multidisciplinary respiratory medicine · 2025Article
- Restitutio ad integrum: Rescuing the Alveolar Macrophage Function with HSCT in Pulmonary Alveolar Proteinosis Due to CSF2Rα Deficiency.Journal of clinical immunology · 2024Article
- Pulmonary alveolar proteinosis induced by X-linked agammaglobulinemia: A case report.World journal of clinical cases · 2024Article
- Evaluation of Genetic or Cellular Impairments in Type I IFN Immunity in a Cohort of Young Adults with Critical COVID-19.Journal of clinical immunology · 2024Article
- Emerging Treatments for Childhood Interstitial Lung Disease.Paediatric drugs · 2024Article
- Towards personalized therapies for genetic disorders of surfactant dysfunction.Seminars in fetal & neonatal medicine · 2023Review
- Article
- Diagnostic workup of childhood interstitial lung disease.European respiratory review : an official journal of the European Respiratory Society · 2023Review
- Lipidomics-Paving the Road towards Better Insight and Precision Medicine in Rare Metabolic Diseases.International journal of molecular sciences · 2023Review
- Interstitial Lung Disease in Immunocompromised Children.Diagnostics (Basel, Switzerland) · 2022Article
- Cryptococcus gattii Infection as the Major Clinical Manifestation in Patients with Autoantibodies Against Granulocyte-Macrophage Colony-Stimulating Factor.Journal of clinical immunology · 2022Article
- Autoimmune Pulmonary Alveolar Proteinosis.American journal of respiratory and critical care medicine · 2022Article
- Allogeneic Hematopoietic Stem Cell Transplantation After Prior Lung Transplantation for Hereditary Pulmonary Alveolar Proteinosis: A Case Report.Frontiers in immunology · 2022Article
- Autoimmune pulmonary alveolar proteinosis in children.ERJ open research · 2022Article
- Bilateral Whole Lung Lavage in Hereditary Pulmonary Alveolar Proteinosis in a 4-year-old Child Using Extracorporeal Membrane Oxygenation.Indian journal of critical care medicine : peer-reviewed, official publication of Indian Society of Critical Care Medicine · 2021Article
- Alveolar proteinosis - an underdiagnosed condition in young people.Medicine and pharmacy reports · 2021Article
- Negative selection on human genes underlying inborn errors depends on disease outcome and both the mode and mechanism of inheritance.Proceedings of the National Academy of Sciences of the United States of America · 2021Article
- Alveolar proteinosis of genetic origins.European respiratory review : an official journal of the European Respiratory Society · 2020Article
- Secondary Pulmonary Alveolar Proteinosis Associated with Primary Myelofibrosis and Ruxolitinib Treatment: An Autopsy Case.Internal medicine (Tokyo, Japan) · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
16 authors at 9 institutions in 6 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundJuvenile pulmonary alveolar proteinosis (PAP) due to CSF2RA mutations is a rare disorder with only a few cases described worldwide.
methodsWe identified nine children with severe diffuse interstitial lung disease due to CSF2RA mutations. Clinical course, diagnostic findings and treatment were evaluated and correlated to the genotype. Functional impairment of the intracellular JAK/pStat5 signaling pathway was assessed using flow-cytometry of peripheral mononuclear cells (PBMC) and granulocytes.
resultsWe identified six individuals with homozygous missense/nonsense/frameshift mutations and three individuals homozygous for a deletion of the complete CSF2RA gene locus. Overall, four novel mutations (c.1125 + 1G > A, duplication exon 8, deletion exons 2-13, Xp22.3/Yp11.3) were found. Reduced STAT5 phosphorylation in PBMC and granulocytes was seen in all cases examined (n = 6). Pulmonary symptoms varied from respiratory distress to clinically silent. Early disease onset was associated with a more severe clinical phenotype (p = 0.0092). No association was seen between severity of phenotype at presentation and future clinical course or extent of genetic damage. The clinical course was favorable in all subjects undergoing whole lung lavage (WLL) treatment.
conclusionsOur cohort broadens the spectrum of knowledge about the clinical variability and genotype-phenotype correlations of juvenile PAP, and illustrates the favorable outcome of WLL treatment in severely affected patients.
Indexed as
Identifiers
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.