What question did this study set out to answer?

The aim is to explore the clinical spectrum of GATA2 deficiency syndrome and its implications.

March 25, 2026Open Access

GATA2 Deficiency Syndrome: A Case Series and Literature Review

Key Points

The aim is to explore the clinical spectrum of GATA2 deficiency syndrome and its implications.
Described three sporadic cases of GATA2 deficiency syndrome.
Analyzed clinical features in relation to published literature.
Identified germline pathogenic variants in the affected individuals.
Patients exhibited various symptoms including recurrent pulmonary infections and congenital neurogenic deafness.
Germline variants identified include NM_001145661.1 c.818dupG and NM_032638.5 c.1084 C > T.
Clinical issues observed include leukopenia and thrombocytopenia in one patient.

Abstract

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: NM₀01145661. 1 c. 818dupG (p. Pro274Thrfs; case 1) and NM₀32638. 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).

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Cite This Study

Dong et al. (Mon,) studied this question.

synapsesocial.com/papers/69c37c33b34aaaeb1a67efa8 https://doi.org/https://doi.org/10.1007/s10875-026-02013-1

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