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
10.3760/cma.j.cn121090-20231013-00199
- VernacularTitle:异基因造血干细胞移植治疗GATA2突变所致MonoMAC综合征伴病态造血1例并文献复习
- Author:
Yifei ZHAO
1
;
Jimin SHI
;
Huarui FU
;
Yeqian ZHAO
;
Hua ZHOU
;
Yanmin ZHAO
Author Information
1. 浙江大学医学院附属第一医院骨髓移植中心，杭州 310000
- From:
Chinese Journal of Hematology
2024;45(4):401-405
- CountryChina
- Language:Chinese
-
Abstract:
A retrospective analysis was conducted on a MonoMAC syndrome case admitted in October 2022 to the First Affiliated Hospital of Zhejiang University School of Medicine. The patient, a 16-year-old female with a history of persistent monocytopenia and mild anemia for several years, experienced recurrent symptoms of cough, expectoration, and fever, leading to multiple visits to the hospital. The diagnosis of MonoMAC syndrome was confirmed through comprehensive assessments including routine blood tests, pathogen metagenomic sequencing, lung and bone marrow biopsies, and next-generation sequencing of peripheral blood. The patient underwent haploidentical hematopoietic stem cell transplantation, with a smooth course of transplantation, achieving neutrophil engraftment on + 16 d and platelet engraftment on + 17 d, eventually restoring normal monocyte and NK cell counts. MonoMAC syndrome patients often initially present with infectious symptoms, and the diagnosis can be established based on significant monocytopenia in routine blood tests, history of non-tuberculous mycobacterial infections, and GATA2 germline mutations. Allogeneic hematopoietic stem cell transplantation may be required for some patients to improve their prognosis.
