# Allogeneic hematopoietic stem cell transplantation in a patient with MonoMAC syndrome and hematopoietic dysplasia which was induced by GATA2 deficiency: a case report and literature review

## TL;DR

A 16-year-old girl with MonoMAC syndrome and GATA2 deficiency successfully underwent allogeneic stem cell transplantation, leading to recovery of blood cell counts.

## Contribution

This case report highlights successful treatment of MonoMAC syndrome with allogeneic hematopoietic stem cell transplantation.

## Key findings

- The patient showed successful engraftment with normal monocyte and NK cell counts post-transplantation.
- MonoMAC syndrome diagnosis was confirmed through GATA2 germline mutation and clinical features.
- Allogeneic stem cell transplantation improved prognosis in this patient with hematopoietic dysplasia.

## Abstract

回顾性分析浙江大学医学院附属第一医院2022年10月收治的1例MonoMAC综合征病例，女性，16岁，有多年外周血单核细胞数减少及轻度贫血病史，因“反复咳嗽咯痰伴发热”在浙江大学医学院附属第一医院多次就诊，最终结合血常规、病原学宏基因组测序、肺穿刺活检、骨髓穿刺活检及外周血二代测序等检查，诊断为MonoMAC综合征，并接受单倍体造血干细胞移植。患者移植过程较顺利，+16 d粒细胞植入，+17 d血小板植入，最终单核细胞数和NK细胞数恢复正常。MonoMAC综合征患者常因感染症状首次就诊，结合血常规中单核细胞明显减低，非结核分枝杆菌感染史、GATA2胚系突变等检查结果可确诊。部分患者需行异基因造血干细胞移植治疗以改善预后。