GATA2 deficiency of a novel missense variant with multiorgan inflammation.
| Autor: | Baba, Hiroyuki, Kimura, Naoki, Kanegane, Hirokazu, Miya, Fuyuki, Kosaki, Kenjiro, Morio, Tomohiro, Koike, Ryuji |
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| Předmět: |
GENETIC disorder diagnosis
BIOPSY FLOW cytometry MYELODYSPLASTIC syndromes AUTOPSY RESPIRATORY insufficiency MULTIPLE organ failure TRANSCRIPTION factors PULMONARY alveolar proteinosis TREATMENT effectiveness BRONCHOALVEOLAR lavage GENETIC disorders INFLAMMATION GENETIC mutation STAINS & staining (Microscopy) GLUCOCORTICOIDS SEQUENCE analysis GENETIC testing DISEASE complications |
| Zdroj: | Rheumatology; Aug2024, Vol. 63 Issue 8, pe226-e228, 3p |
| Abstrakt: | The article describes the case of a 32-year-old Japanese woman of inborn good health who experienced fever and EBV viremia. Topics discussed include findings on laboratory tests, the hospital admission of the patient at the age of 35 years becuase of dyspnea and pancytopenia, and her death 68 days after admission, despite intensive care. |
| Databáze: | Complementary Index |
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