Title |
Diffuse parenchymal lung disease as first clinical manifestation of GATA-2 deficiency in childhood
|
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Published in |
BMC Pulmonary Medicine, February 2015
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DOI | 10.1186/s12890-015-0006-2 |
Pubmed ID | |
Authors |
Tamara Svobodova, Ester Mejstrikova, Ulrich Salzer, Martina Sukova, Petr Hubacek, Radoslav Matej, Martina Vasakova, Ludmila Hornofova, Marcela Dvorakova, Eva Fronkova, Felix Votava, Tomas Freiberger, Petr Pohunek, Jan Stary, Ales Janda |
Abstract |
GATA-2 transcription factor deficiency has recently been described in patients with a propensity towards myeloid malignancy associated with other highly variable phenotypic features: chronic leukocytopenias (dendritic cell-, monocyto-, granulocyto-, lymphocytopenia), increased susceptibility to infections, lymphatic vasculature abnormalities, and sensorineural deafness. Patients often suffer from opportunistic respiratory infections; chronic pulmonary changes have been found in advanced disease. |
X Demographics
Geographical breakdown
Country | Count | As % |
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United Kingdom | 1 | 50% |
Unknown | 1 | 50% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Science communicators (journalists, bloggers, editors) | 1 | 50% |
Members of the public | 1 | 50% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 60 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Master | 11 | 18% |
Student > Bachelor | 8 | 13% |
Researcher | 7 | 12% |
Student > Postgraduate | 5 | 8% |
Professor > Associate Professor | 4 | 7% |
Other | 16 | 27% |
Unknown | 9 | 15% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 25 | 42% |
Agricultural and Biological Sciences | 6 | 10% |
Nursing and Health Professions | 4 | 7% |
Biochemistry, Genetics and Molecular Biology | 2 | 3% |
Unspecified | 2 | 3% |
Other | 6 | 10% |
Unknown | 15 | 25% |