Open AccessDiagnosing MonoMAC Syndrome in GATA2 Germline Mutated Myelodysplastic Syndrome via Next-Generation Sequencing in a Patient with Refractory and Complex Infection: Case Report and Literature Review
Author(s) -
Yingying Shen,
Yuzhu Li,
Hangchao Li,
Qi Liu,
Huijie Dong,
Bo Wang,
Baodong Ye,
Shenyun Lin,
Yiping Shen,
Dijiong Wu
Publication year - 2021
Publication title -
infection and drug resistance
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.033
H-Index - 39
ISSN - 1178-6973
DOI - 10.2147/idr.s305825
Subject(s) - pancytopenia , medicine , germline mutation , germline , bloom syndrome , immunology , pediatrics , mutation , biology , genetics , gene , bone marrow , helicase , rna
Monocytopenia and mycobacterial infection (MonoMAC) syndrome is a rare disease. Herein, we reported a 65-year-old Asian woman, previously diagnosed with myelodysplastic syndrome (MDS), suffering from recurrent pneumonia, intermittent fever, fatigue, and chest tightness lasting for five months. She was ultimately diagnosed with MonoMAC syndrome with Mycobacterium kansasii ( M. kansasii ) infection and GATA2 mutation through metagenomic generation sequencing (mNGS) of peripheral blood specimen, for which she was given anti-NTM therapy. Her situation significantly improved within 2 weeks of therapy. We discussed the clinical features, genetic characteristic, and prognosis of this disorder, aiming to further elucidate this rare syndrome. For MDS/AML patient with recurrent mixed infection and pancytopenia (especially with monocyte absence), MonoMAC syndrome should be highly suspected, and germline mutation and pathogen sequencing should be performed.