Description
Metadata
Settings
About:
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.
Permalink
an Entity references as follows:
Subject of Sentences In Document
Object of Sentences In Document
Explicit Coreferences
Implicit Coreferences
Graph IRI
Count
http://ns.inria.fr/covid19/graph/entityfishing
6
http://ns.inria.fr/covid19/graph/articles
3
Faceted Search & Find service v1.13.91
Alternative Linked Data Documents:
Sponger
|
ODE
Raw Data in:
CXML
|
CSV
| RDF (
N-Triples
N3/Turtle
JSON
XML
) | OData (
Atom
JSON
) | Microdata (
JSON
HTML
) |
JSON-LD
About
This work is licensed under a
Creative Commons Attribution-Share Alike 3.0 Unported License
.
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)
Copyright © 2009-2025 OpenLink Software