GATA2 deficiency in a patient with a somatic mutation of GATA2.

Abstract

GATA2 deficiency is a rare autosomal dominant genetic disease caused by heterozygous mutations in the GATA2 gene. It is associated with various syndromes characterized by immune deficiency, including Emberger syndrome (lymphedema and monosomy 7), MonoMAC syndrome (monocytopenia and Mycobacterium avium complex infection), dendritic cell, monocyte, B and natural killer (NK) lymphoid deficiency (DCML), and familial myelodysplastic syndromes (MDS)/acute myeloid leukemia (AML), etc. while germline mutations in GATA2 have been extensively documented, somatic mutations are rarely reported. In this report, we present the case of a female patient diagnosed with GATA2 deficiency due to an acquired/somatic mutation (c.1186C > T, p.Arg396Trp) in the GATA2 gene. The patient displayed typical immunodeficiency symptoms, including monocytopenia, recurrent bacterial or fungal infections, and autoimmune features. This case serves to highlight the presence of a somatic mutation in GATA2, resulting in a phenotype similar to those observed in individuals with germline GATA2 mutations.