What question did this study set out to answer?

The aim is to detail the complications of GATA2 deficiency, particularly relating to HLH with concurrent infections.

May 14, 2026Open Access

Hemophagocytic Lymphohistiocytosis Triggered by Legionella pneumophila and SARS ‐ CoV ‐2 Infection in GATA2 Deficiency

Key Points

The aim is to detail the complications of GATA2 deficiency, particularly relating to HLH with concurrent infections.
Described a case of a young adult with GATA2 deficiency and Legionella pneumonia, COVID-19, and HLH.
Included analysis of pre-existing myelodysplasia (SF3B1 mutation).
Reported on the outcome following allogeneic hematopoietic stem cell transplantation.
Successful management of HLH with allogeneic hematopoietic stem cell transplantation following diagnosis.
Patient had concurrent infections with Legionella pneumonia and SARS-CoV-2.
The case illustrates the challenges associated with managing complex infections in GATA2 deficiency.

Abstract

ABSTRACT 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.

Hemophagocytic Lymphohistiocytosis Triggered by Legionella pneumophila and SARS ‐ CoV ‐2 Infection in GATA2 Deficiency

Key Points

Abstract

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