Characterizing Infections in GATA2 Deficiency

GATA2 deficiency is a rare immunodeficiency and bone marrow failure syndrome characterized by loss of monocytes, dendritic cells, B cells, and NK cells, predisposing patients to disseminated nontuberculous mycobacteria, invasive fungi, severe herpesviruses, and human papillomavirus (HPV)-related disease. We present 2 cases illustrating the infectious spectrum of this disorder. Case 1 is a 21-year-old woman with GATA2-associated myelodysplastic syndrome, who progressed to acute myeloid leukemia, who developed recurrent Staphylococcus epidermidis bacteremia, invasive fungal sinusitis, Epstein-Barr viremia, and hemophagocytic lymphohistiocytosis following allogeneic-hematopoietic stem cell transplant. Case 2 is an 81-year-old man with GATA2 deficiency and follicular lymphoma evolving to T-cell large granular lymphocytic leukemia (T-LGLL) and CD30-positive peripheral T-cell lymphoma (PTCL), who developed chronic SARS-CoV-2 infection and multidrug-resistant bacterial pneumonia. Both patients died despite aggressive management. Case 2 represents one of the oldest reported GATA2 patients and the first reported association with follicular lymphoma, T-LGLL, and PTCL.