Common cutaneous signs unmasking a severe hematological disorder: GATA2 deficiency

Abstract

GATA2 deficiency is a rare genetic disorder with heterogeneous clinical manifestations affecting the immune, hematologic, and vascular systems. We report the case of a 31-year-old woman with primary lymphedema progressing since childhood, associated with diffuse treatment-resistant warts and severe monocytopenia. Genetic testing revealed a mutation in the GATA2 gene (c.1078T>C), resulting in complete loss of protein function. The patient also exhibited leukopenia and anemia, and bone marrow evaluation confirmed progression to acute myeloid leukemia. The immune deficiencies caused by this mutation explain the increased susceptibility to recurrent infections, particularly persistent human papillomavirus infections responsible for the extensive warts in this patient. The frequent progression to myelodysplastic syndromes and leukemia underscores the severity of this condition and the importance of early diagnosis. Management requires close monitoring, with hematopoietic stem cell transplantation representing the only curative option to improve prognosis and prevent progression to life-threatening complications. This case highlights the need for prompt identification of GATA2 mutations in patients with suggestive clinical features to optimize surveillance and treatment.