To present a case of ischemic stroke in a patient with rare monoMAC syndrome associated with GATA2 mutation and early-onset atherosclerosis.

The GATA2 gene codes for a transcription factor crucial for regulation of hematopoiesis, inflammation, and smooth muscle cell function¹. Mutations in this gene are associated with MonoMAC syndrome, a rare immunodeficiency characterized by monocytopenia, lymphocytopenia, and disseminated M. avium complex (MAC) infections¹,². Polymorphisms at the GATA2 locus are associated with coronary artery disease (CAD) through early-onset atherosclerosis³, but there is a paucity of data regarding association of GATA2 mutation and cerebrovascular disease.

47-year-old female who had previously been diagnosed with MonoMAC syndrome after presenting with disseminated human papillomavirus infection. Genetic workup at the National Institutes of Health revealed a N371K GATA2 mutation. She developed severe myelodysplastic syndrome requiring allographic bone marrow transplant. She presented with acute right arm apraxia and MRI brain demonstrated scattered acute infarcts in left frontoparietal lobe. CTA head demonstrated moderate intracranial atherosclerosis disease (ICAD) in left middle cerebral artery. Her atherosclerotic risk factors were relatively well controlled – HbA1c 5.8, Low-density lipoprotein 138 mg/dL, high-density lipoprotein 42 mg/dL, systolic BP ranged from 130-140 mmHg. Cardiac workup was also unremarkable. Patient had been taking apixaban for multiple extensive bilateral unprovoked DVTs which was continued. She denied subacute headaches or cognitive symptoms to suggest inflammatory vasculopathy as an alternative etiology.

The GATA2 gene is expressed in vascular tissue and plays an important role in the regulation of hematopoiesis and inflammation³. Emerging evidence suggests a link between GATA2 polymorphisms and early-onset CAD. Our case is the first to demonstrate early-onset ICAD associated with N371K GATA2 mutation. The association between GATA2 mutation and acute ischemic stokes is an important consideration as this patient population may benefit from aggressive primary stroke preventive measures.