Case report shows successful treatment of HLH in a young adult with GATA2 deficiency and infections, highlighting the complexity of management.
Germline GATA2 deficiency predisposes to bone marrow failure, myeloid neoplasia, and immune dysregulation. The syndrome is often complicated by infection with intracellular pathogens and viruses, autoimmunity, and inflammation. Hemophagocytic lymphohistiocytosis (HLH) is a rare occurrence that can present further management challenges. Here, we describe a young adult with GATA2 deficiency presenting with Legionella pneumonia, COVID‐19, and HLH with underlying SF3B1 ‐mutated myelodysplasia that responded successfully to allogeneic hematopoietic stem cell transplantation.
No takes yet. Share an insight, caveat, or question.
Wilson et al. (2026) studied this question.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: