GATA2 deficiency in adult with alveolar proteinosis, infections, lymphadenopathy with granulomatosis, and immune deficiency (Case report)

Juliana Gabzdilova^1,2Štefan Raffáč^3*

• ¹Faculty of Medicine, University of Pavol Jozef Šafárik, Kosice, Slovakia
• ²Department of Hematology and Oncohematology, Louis Pasteur University Hospital, Košice, Slovakia
• ³Clinical Immunology, Louis Pasteur University Hospital, Kosice, Slovakia

GATA2 protein is important haematopoietic transcription factor. GATA2 deficiency, caused by heterozygous mutation of GATA2, includes group of diseases presented with monocytopenia, cellular immunodeficiency with marked susceptibility to infection (mycobacterial, fungal and viral), myelodysplasia (MDS), leukemic transformation, vessel abnormalities, and deafness. Most data are available in case reports. The challenge is to increase the awareness about GATA2 deficiency and to find the best treatment protocol for the patient. Allogeneic haematopoietic stem cell transplantation (allo-HSCT) is the only curative treatment available. However, it is also associated with significant treatment-related morbidity and mortality. Therefore, determining the appropriate timing of allo-HSCT is critical. We present the case of a young adult male with severe lung alveolar proteinosis, granulomatous disease, infections and autoimmune complications present before we confirm GATA2 newly described mutation. The main sign that led to the suspicion of GATA2 deficiency was prolonged monocytopenia and absence of monocyte in peripheral blood and bone marrow along with recurrent infections and alveolar proteinosis. Exact and early diagnosis of this disease is crucial. Late stage of disease is associated with increased mortality and severe complications, that contraindicate bone marrow transplantation or worsen survival.