Disseminated nontuberculous mycobacteriosis and fungemia after second delivery in a patient with MonoMAC syndrome/GATA2 mutation: a case report

Mizuki Haraguchi,Yutaka Tsukune,Mika Koyama,Yoshiya Horimoto,Hitomi Yoshikawa,Moegi Komura,Tetsutaro Nagaoka,Takuo Hayashi,Yukina Shirai,Kazuhisa Takahashi,Jun Ito,Toshimasa Uekusa,Junko Watanabe,Norihiro Harada

doi:10.1186/s12879-021-06203-7

Mizuki Haraguchi, Yutaka Tsukune + Show 12 more

Open Access

https://doi.org/10.1186/s12879-021-06203-7

Copy DOI

Abstract

BackgroundHeterozygous mutations in the transcription factor GATA2 result in a wide spectrum of clinical phenotypes, including monocytopenia and Mycobacterium avium complex (MAC) infection (MonoMAC) syndrome. Patients with MonoMAC syndrome typically are infected by disseminated nontuberculous mycobacteria, fungi, and human papillomavirus, exhibit pulmonary alveolar proteinosis during late adolescence or early adulthood, and manifest with decreased content of dendritic cells (DCs), monocytes, and B and natural killer (NK) cells.Case presentationA 39-year-old woman was diagnosed with MonoMAC syndrome postmortem. Although she was followed up based on the symptoms associated with leukocytopenia that was disguised as sarcoidosis with bone marrow involvement, she developed disseminated nontuberculous mycobacterial infection, fungemia, and MonoMAC syndrome after childbirth. Genetic testing revealed a heterozygous missense mutation in GATA2 (c.1114G > A, p.A372T). Immunohistochemistry and flow cytometry showed the disappearance of DCs and decreased frequency of NK cells in the bone marrow, respectively, after childbirth.ConclusionsTo the best of our knowledge, this is the first study reporting that MonoMAC syndrome can be exacerbated after childbirth, and that immunohistochemistry of bone marrow sections to detect decreased DC content is useful to suspect MonoMAC syndrome.

Highlights

Heterozygous mutations in the transcription factor guanine-adenine-thymineadenine 2 (GATA2) result in a wide spectrum of clinical phenotypes, including monocytopenia and Mycobacterium avium complex (MAC) infection (MonoMAC) syndrome
To the best of our knowledge, this is the first study reporting that MonoMAC syndrome can be exacerbated after childbirth, and that immunohistochemistry of bone marrow sections to detect decreased dendritic cell (DC) content is useful to suspect MonoMAC syndrome
Inherited or sporadic heterozygous mutations in the transcription factor GATA2 causes a germline disease manifesting a wide spectrum of clinical phenotypes including monocytopenia and Mycobacterium avium complex (MAC) infection (MonoMAC) syndrome [1, 2]; dendritic cell (DC), monocyte, B and natural killer (NK) lymphoid (DCML) deficiency [3]; familial myelodysplastic syndrome (MDS)/acute myeloid leukemia (AML) [4]; Emberger syndrome [5]; and classic NK cell deficiency [6]

Summary

Conclusions

To the best of our knowledge, this is the first study reporting that MonoMAC syndrome can be exacerbated after childbirth, and that immunohistochemistry of bone marrow sections to detect decreased DC content is useful to suspect MonoMAC syndrome.

Background

Findings

Discussion and conclusions