Abstract GATA 2 deficiency is a rare immunodeficiency affecting hematopoiesis and lymphatics that typically appears during late adolescence or early adulthood.Those affected often develop recurrent infections, lymphedema, and cytopenias with an elevated risk of myelodysplastic syndrome and AML. We discuss a case of Mycobacterium abscessus infection presenting with a massive pleural effusion in a young adult ultimately diagnosed with GATA 2 deficiency. A 34 year old female presented with 2 weeks of progressive dyspnea, cough, and chest pressure that failed to respond to azithromycin. She was noted to have a massive left-sided pleural effusion, and a chest tube was placed yielding 5L of yellow exudative fluid which was culture-negative and mononuclear predominant. She reported a history of longstanding lymphedema, leukopenia and anemia with an unremarkable bone marrow biopsy, and treatment for pneumonia with moderate right pleural effusion 1 year earlier. Bronchoscopy was performed with biopsy of a left mainstem nodularity, EBUS-TBNA of a 4 cm subcarinal lymph node, and lingular BAL. Lymph node aspirates showed necrotizing granulomas with negative PCR and cultures. She underwent VATS with biopsy of the pleura, lung, and confluent adenopathy encircling the left mainstem bronchus and evacuation of pleural fluid. Pathology showed non-necrotizing and necrotizing granulomas with fibrosis and chronic inflammatory changes. Stains and PCR for infectious agents were negative. On day 18 post-VATS, M. abscessus grew from multiple samples obtained during VATS, while bronchoscopy cultures from nodal aspirates ultimately grew M. abscessus. She started amikacin, tigecycline, and azithromycin. GATA-2 deficiency was suggested by non-tuberculous mycobacterial (NTM) infection, cytopenias, and lymphedema and genetic testing at the NIH confirmed this diagnosis. Two months into antibiotic treatment she developed a loculated right sided pleural effusion felt to represent bacterial pneumonia and underwent VATS for pleural drainage at the NIH. NTM infections are common in patients with GATA 2 deficiency, but massive pleural effusion in this setting has not been described. Pleural effusions infrequently occur with NTM infection but large effusions are even less common. We present a case of recurrent pleural effusion associated with active infection including massive pleural effusion due to M.abscessus infection of the pleural space. We hypothesize that abnormal lymphatic function, as evidenced by longstanding lymphedema, associated with GATA 2 deficiency predisposed to massive pleural effusion in this case. This abstract is funded by: None
Erstad et al. (Fri,) studied this question.