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

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...

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Bibliographic Details
Published in:Zhōnghuá xuèyèxué zázhì 2024-04, Vol.45 (4), p.401
Main Authors: Zhao, Y F, Shi, J M, Fu, H R, Zhao, Y Q, Zhou, H, Zhao, Y M
Format: Article
Language:Chinese
Subjects:
Adolescent
Female
GATA2 Deficiency - diagnosis
GATA2 Deficiency - genetics
GATA2 Transcription Factor - genetics
Hematopoietic Stem Cell Transplantation - methods
Humans
Retrospective Studies
Transplantation, Homologous
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Summary: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
ISSN:0253-2727
DOI:10.3760/cma.j.cn121090-20231013-00199