About: GATA2 deficiency in children and adults with severe pulmonary alveolar proteinosis and hematologic disorders

Facets (new session)
Description
Metadata
Settings
- owl:sameAs
- Inference Rule:

About: GATA2 deficiency in children and adults with severe pulmonary alveolar proteinosis and hematologic disorders Goto Sponge NotDistinct Permalink

An Entity of Type : schema:ScholarlyArticle, within Data Space : wasabi.inria.fr associated with source document(s)

Attributes	Values
type	Academic Article research paper schema:ScholarlyArticle
isDefinedBy	Covid-on-the-Web dataset
has title	GATA2 deficiency in children and adults with severe pulmonary alveolar proteinosis and hematologic disorders
Creator	Jung, Andreas Griese, Matthias Campo, Ilaria Luisetti, Maurizio Klein, Christoph Bonella, Francesco Costabel, Ulrich Schams, Andrea Schön, Carola Blum, Helmut Krebs, Stefan Albert, Michael Hildebrandt, Jenna Kappler, Matthias Krenke, Katazyrna Kröner, Carolin Lange, Joanna Theegarten, Dirk Thiel, Antonia Wesselak, Traudl Zarbock, Ralf
Source	PMC
abstract	BACKGROUND: The 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. METHODS: Of 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. RESULTS: Age 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. CONCLUSIONS: In 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.
has issue date	2015-08-12(xsd:dateTime)
bibo:doi	10.1186/s12890-015-0083-2
bibo:pmid	26264606
has license	cc-by
sha1sum (hex)	35c1acec82c2f75a5d311b6adaceee30cbedaf6c
schema:url	https://doi.org/10.1186/s12890-015-0083-2
resource representing a document's title	GATA2 deficiency in children and adults with severe pulmonary alveolar proteinosis and hematologic disorders
has PubMed Central identifier	PMC4542098
has PubMed identifier	26264606
schema:publication	BMC Pulm Med
resource representing a document's body	covid:35c1acec82c2f75a5d311b6adaceee30cbedaf6c#body_text
is schema:about of	named entity 'PAP' named entity 'repetitive' named entity 'patients' named entity 'PAP' named entity 'disorders' named entity 'GATA2 deficiency' named entity 'PAP' named entity 'patients' named entity 'sequenced' named entity 'ADULTS' named entity 'GATA2' named entity '0.3' named entity 'CHRONIC' named entity 'STEM CELL TRANSPLANT' named entity 'RESULTS' named entity 'CHILDREN' named entity 'exogenous' named entity 'lung' named entity 'chronic' named entity 'GATA2' named entity 'stem cell' named entity 'GATA2' named entity 'GATA2 deficiency' named entity 'Hematologic disorders' named entity 'auto-antibodies' named entity 'sequenced' named entity 'transcription factor' named entity 'Type 2' named entity 'GATA2' named entity 'hematologic disorders' named entity 'cholesterol' named entity 'MDS' named entity 'lymphoblastic leukemia' named entity 'myelodysplastic syndrome' named entity 'GATA2' named entity 'serum' named entity 'immune deficiency' named entity 'lymphatics' named entity 'respiratory tract infections' named entity 'stem cell' named entity 'GM-CSF' named entity 'respiratory failure' named entity 'PAP' named entity 'GATA2' named entity 'hematologic disorders' named entity 'missense mutation' named entity 'antisense' named entity 'phenotype' named entity 'CML' named entity 'Pseudomonas' named entity 'CT1' named entity 'serum' named entity 'acute cardiac failure' named entity 'genetic diseases' named entity 'bronchoalveolar lavage' named entity 'serum' named entity 'PAP' named entity 'immunodeficiency' named entity 'congenital' named entity 'autoantibodies' named entity 'MDS'

Faceted Search & Find service v1.13.91 as of Mar 24 2020

Alternative Linked Data Documents: Sponger | ODE Content Formats:

RDF

ODATA

Microdata

About

OpenLink Virtuoso version 07.20.3229 as of Jul 10 2020, on Linux (x86_64-pc-linux-gnu), Single-Server Edition (94 GB total memory)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software