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GATA2 deficiency of a novel missense variant with multiorgan inflammation.
- Source :
-
Rheumatology . Aug2024, Vol. 63 Issue 8, pe226-e228. 3p. - Publication Year :
- 2024
-
Abstract
- 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.
- Subjects :
- *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
Subjects
Details
- Language :
- English
- ISSN :
- 14620324
- Volume :
- 63
- Issue :
- 8
- Database :
- Academic Search Index
- Journal :
- Rheumatology
- Publication Type :
- Academic Journal
- Accession number :
- 178887646
- Full Text :
- https://doi.org/10.1093/rheumatology/keae062