GATA2 deficiency: a long way to diagnosis (case report)

GATA2 deficiency is a form of inborn errors of immunity (or primary immunodeficiencies) with a wide range of symptoms. According to the international classification of primary immunodeficiency diseases it is classified as congenital defects of phagocyte number, function, or both. Heterozygous mutations in the GATA2 gene cause syndromes reported in the literature as dendritic cell, monocyte, B and NK lymphoid deficiency, MonoMAC syndrome (monocytopenia and mycobacterial infection), familial myelodysplastic syndrome, and Emberger syndrome (the combination of myelodysplasia and congenital lymphedema). Here we present a literature review on GATA2 deficiency and report a clinical case of an adult woman with the abovementioned immune defect, the results of laboratory and instrumental examinations, therapy, and outcome. The patient’s condition was complicated by lymphedema, myelodysplastic syndrome, endometrial carcinoma in situ, nonspecific pulmonary lesion, recurrent miscarriage, and rheumatic conditions (erythema nodosum). The mentioned diversity of clinical manifestations is a reason for long diagnostic search, as well as difficulties in diagnosis and selection of optimal treatment tactics.