A UNIQUE PRESENTATION OF GATA2 DEFICIENCY, EMBERGER SYNDROME

Abstract

<h3>Introduction</h3> GATA2 deficiency is a genetic defect resulting in a group of disorders, including Emberger syndrome. It presents in childhood with lymphedema, sensorineural hearing loss, lymphocyte deficiency, pulmonary alveolar proteinosis, and one or more dysplasias, commonly myelodysplastic syndrome or acute myeloid leukemia. <h3>Case Description</h3> A 7-year-old female with left eye esotropia status post correction, presented with left leg swelling. Rheumatological workup and imaging studies were negative. CBC showed persistent anemia, leukopenia, and no monocytes. Immunological workup including TBNK, immunoglobulins, mitogen proliferation, DHR test, pneumococcal, diphtheria and tetanus IgG, TB Quant gold, CMV, EBV, and HSV were normal except inadequate Diphtheria and pneumococcal IgG, low absolute CD19 (19 K/CUMM), NK cells (4 K/CUMM) and a positive EBV IgG. Genetic testing identified autosomal dominant pathogenic c.1148dup in <i>GATA2</i> gene. CXR was negative for pulmonary alveolar proteinosis. Antivirals and azithromycin for prophylaxis were started. Bone marrow biopsy has been scheduled to evaluate for acute myeloid dysplasia. Bone marrow transplant is necessary for curative treatment. <h3>Discussion</h3> GATA2 deficiencies have variable presentations, but commonly present with opportunistic infections (CMV, EBV, HSV, VZV, mycobacteria), leukopenia, and myelodysplasias. Though our patient has no hearing loss or infections, she has lymphedema, anemia, and neutropenia consistent with Emberger syndrome. Despite monocyte/B/NK cell deficiencies, our patient did not fit the diagnosis of MonoMAC syndrome as there was no pulmonary alveolar proteinosis, infections, or leukemia/myelodysplasia.