ArticleBMC pulmonary medicine2015
GATA2 deficiency in children and adults with severe pulmonary alveolar proteinosis and hematologic disorders.
Article in BMC pulmonary medicine, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers, 1 of them a synthesis that pooled it.
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Who cites it
35 citing papers in PubMed, 1 synthesis or guideline pooled it.
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- GATA2 controls alveolar macrophage inflammatory gene expression and metabolic function.JCI insight · 2026Article
- The necessity of geneticist and pulmonologist collaboration in the treatment of monogenic interstitial lung diseases in adults.Breathe (Sheffield, England) · 2025Review
- Multicystic Interstitial Lung Disease Due to a Novel Biallelic C-C Chemokine Receptor Type 2 Variant.Pediatric pulmonology · 2025Article
- Article
- Pulmonary Alveolar Proteinosis and new therapeutic concepts.Klinische Padiatrie · 2024Article
- Emerging Treatments for Childhood Interstitial Lung Disease.Paediatric drugs · 2024Article
- CDMPred: a tool for predicting cancer driver missense mutations with high-quality passenger mutations.PeerJ · 2024Article
- Role of the pioneer transcription factor GATA2 in health and disease.Journal of molecular medicine (Berlin, Germany) · 2023Review
- Transcriptome Analysis of Peripheral Blood Mononuclear Cells Response in Patients with Severe COVID-19 Reveals Crucial Genes Regulating Protein Ubiquitination.Medical science monitor : international medical journal of experimental and clinical research · 2022Article
- GATA2 haploinsufficient patients lack innate lymphoid cells that arise after hematopoietic cell transplantation.Frontiers in immunology · 2022Article
- Single Center Experience With Pediatric Patients With GATA2 Deficiency.Frontiers in pediatrics · 2022Article
- Pulmonary Manifestations of GATA2 Deficiency.Chest · 2021Article
- CISH attenuates homeostatic cytokine signaling to promote lung-specific macrophage programming and function.Science signaling · 2021Article
- Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance.Journal of clinical immunology · 2021Article
- Beyond "Big Eaters": The Versatile Role of Alveolar Macrophages in Health and Disease.International journal of molecular sciences · 2021Review
- Systemic Pulmonary Events Associated with Myelodysplastic Syndromes: A Retrospective Multicentre Study.Journal of clinical medicine · 2021Article
- Chronic myelomonocytic leukemia-associated pulmonary alveolar proteinosis: A case report and review of literature.World journal of clinical cases · 2021Article
- Somatic GATA2 mutations define a subgroup of myeloid malignancy patients at high risk for invasive fungal disease.Blood advances · 2021Article
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Authors and funding
21 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe majority of cases with severe pulmonary alveolar proteinosis (PAP) are caused by auto-antibodies against GM-CSF. A multitude of genetic and exogenous causes are responsible for few other cases. Goal of this study was to determine the prevalence of GATA2 deficiency in children and adults with PAP and hematologic disorders.
methodsOf 21 patients with GM-CSF-autoantibody negative PAP, 13 had no other organ involvement and 8 had some form of hematologic disorder. The latter were sequenced for GATA2.
resultsAge at start of PAP ranged from 0.3 to 64 years, 4 patients were children. In half of the subjects GATA2-sequence variations were found, two of which were considered disease causing. Those two patients had the typical phenotype of GATA2 deficiency, one of whom additionally showed a previously undescribed feature - a cholesterol pneumonia. Hematologic disorders included chronic myeloic leukemia, juvenile myelo-monocytic leukemia, lymphoblastic leukemia, sideroblastic anemia and two cases of myelodysplastic syndrome (MDS). A 4 year old child with MDS and DiGeorge Syndrome Type 2 was rescued with repetitive whole lung lavages and her PAP was cured with heterologous stem cell transplant.
conclusionsIn children and adults with severe GM-CSF negative PAP a close cooperation between pneumologists and hemato-oncologists is needed to diagnose the underlying diseases, some of which are caused by mutations of transcription factor GATA2. Treatment with whole lung lavages as well as stem cell transplant may be successful.
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