The Clinical Spectrum, Diagnosis, and Management of GATA2 Deficiency
Abstract
:Simple Summary
Abstract
1. Background
2. GATA2 Molecular Insights
3. GATA2 Phenotypic Spectrum
4. Hematological Presentation
4.1. Bone Marrow Failure
4.2. Myeloid Neoplasms
5. Immunodeficiency Disorder
6. Non-Hemato-/Immunologic Manifestations
6.1. Pulmonary Involvement
6.2. Emberger Syndrome: Dysmorphic Features
6.3. Other Dysmorphic Features
7. Management and Surveillance
7.1. Allogeneic-HSCT
7.1.1. Indications for and Timing of allo-HSCT
7.1.2. Conditioning, Graft Source, and Donors
7.1.3. HSCT-Derived Complications
7.2. Antibiotic Prophylaxis, Immunoglobulins, and Vaccination
7.3. Surveillance
7.4. Family Monitoring
7.5. Genetic Counseling
8. Conclusions
9. Future Directions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
References
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Santiago, M.; Liquori, A.; Such, E.; Zúñiga, Á.; Cervera, J. The Clinical Spectrum, Diagnosis, and Management of GATA2 Deficiency. Cancers 2023, 15, 1590. https://doi.org/10.3390/cancers15051590
Santiago M, Liquori A, Such E, Zúñiga Á, Cervera J. The Clinical Spectrum, Diagnosis, and Management of GATA2 Deficiency. Cancers. 2023; 15(5):1590. https://doi.org/10.3390/cancers15051590
Chicago/Turabian StyleSantiago, Marta, Alessandro Liquori, Esperanza Such, Ángel Zúñiga, and José Cervera. 2023. "The Clinical Spectrum, Diagnosis, and Management of GATA2 Deficiency" Cancers 15, no. 5: 1590. https://doi.org/10.3390/cancers15051590