Diagnosing 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

Abstract

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.

Detection of pulmonary actinomycosis by metagenomic next-generation sequencing in a cancer patient receiving maintenance olaparib: A review and case report

“…For the identification of viruses or parasites, the role of traditional test methods is really limited. Moreover, mNGS is suitable for various types of specimens, including tissue, sputum, bronchoalveolar lavage, pleural effusion, peripheral blood, and cerebrospinal fluid, and can be applied in the clinical practices of mixed infection, conditional infection, rare pathogen infection, and severe infection, especially in immunosuppressive hosts [ [28] , [29] , [30] ]. In addition, mNGS does have an advantage in decreasing the time of pathogen detection and improving diagnostic sensitivity [ 29 ].…”

Disseminated Nontuberculous Mycobacterial Infection in a Tertiary Referral Hospital in South Korea: A Retrospective Observational Study

“…MonoMAC syndrome is a rare disease caused by heterozygous mutations in GATA2 , which results in loss of gene function that regulates various aspects of development from hematopoiesis to lymphatic, leading to immunodeficiency and bone marrow failure. 25 26 Mutations in the GATA2 gene result in immune deficiency diseases that reduce the numbers of circulating monocytes, dendritic cells, NK cells, and B cells, resulting in increased opportunistic infections and increased risk of malignant blood cancer. 26 Patient 3 in our study showed decreased NK cells, B cells, and pancytopenia.…”

MonoMAC syndrome with GATA2 novel mutation: A case report

“…The clinical picture of our patient with GATA2 corresponds to MonoMAC syndrome that was first described in 2010 and in 2011 was linked to discovered mutations in the GATA2 gene. These patients suffer from preexisting monocytopenia, B-cell and NK-cell lymphopenia, reduction/lack of CD56 NK cells and dendritic cells, inverted ratio of CD4:CD8 cells, and chronic neutropenia [13] . The second typical feature of the syndrome is the development of non-tuberculosis mycobacterium infections.…”