GATA2 Deficiency Syndrome: A Case Series and Literature Review

GATA2 functions as a critical zinc finger transcription factor and plays indispensable roles in hematopoiesis, immune regulation, and lymphatic vascular development. GATA2 deficiency underlies a diverse phenotypic spectrum, encompassing primary lymphedema, myelodysplasia, acute myeloid leukemia, immune dysfunction, and sensorineural deafness. This report describes three sporadic cases of GATA2 deficiency syndrome and summarizes their clinical features in the context of previously published literature. All three patients carried germline pathogenic GATA2 variants: NM_001145661.1 c.818dupG (p. Pro274Thrfs; case 1) and NM_032638.5 c.1084 C > T (p. Arg362*; cases 2 and 3). The clinical presentations included recurrent pulmonary infections, leukopenia, and thrombocytopenia (case 1) and congenital neurogenic deafness (cases 2 and 3).