Unveiling GATA2 Deficiency A Hidden Genetic Syndrome in Pediatric MDS скачать в хорошем качестве

Unveiling GATA2 Deficiency A Hidden Genetic Syndrome in Pediatric MDS

Hidden Signs of GATA2 Deficiency: Why Doctors Miss This Rare Disorder | GlobalRPh GATA2 deficiency is the most common inherited cause of pediatric myelodysplastic syndrome (MDS), yet it is frequently overlooked due to its diverse, non-specific presentation. This video explores the clinical complexity of this autosomal dominant syndrome, which carries a high risk of progression to myeloid malignancies and often goes unrecognized until advanced disease has developed. Join us as we examine why this potentially life-threatening condition continues to elude diagnosis—even among experienced clinicians. We break down: The molecular role of GATA2 in hematopoiesis and immunity Characteristic but subtle clinical and laboratory findings Syndromic features including persistent warts, pulmonary disease, cytopenias, and lymphedema Diagnostic pitfalls including misclassification as aplastic anemia, CVID, and autoimmune disease Crucial differences in bone marrow findings and flow cytometry patterns Gaps in standard genetic testing and the importance of RNA-based diagnostics This presentation underscores the importance of early genetic evaluation and offers a practical framework for when to suspect GATA2 deficiency. It is essential viewing for hematologists, oncologists, immunologists, geneticists, and other specialists who care for patients with unexplained cytopenias, recurrent infections, or atypical presentations of bone marrow failure. 🎯 Key takeaway: Early recognition and timely HSCT can be lifesaving. Don't miss the diagnostic clues hidden in plain sight. Subscribe to GlobalRPh for more expert-driven, evidence-based clinical insights. #Hematology #GATA2Deficiency #MDS #Immunodeficiency #BoneMarrowFailure #GenomicMedicine #OncologyEducation #GlobalRPh #PediatricMDS #HSCT #ClinicalPearls #MedicalEducation