GATA2 mutation underlies hemophagocytic lymphohistiocytosis in an adult with primary cytomegalovirus infection

Tetsuya Suzuki; Saho Takaya; Junwa Kunimatsu; Satoshi Kutsuna; Kayoko Hayakawa; Hirofumi Shibata; Takahiro Yasumi; Norio Ohmagari

doi:10.1016/j.jiac.2019.07.002

GATA2 mutation underlies hemophagocytic lymphohistiocytosis in an adult with primary cytomegalovirus infection

J Infect Chemother. 2020 Feb;26(2):252-256. doi: 10.1016/j.jiac.2019.07.002. Epub 2019 Jul 23.

Authors

Tetsuya Suzuki¹, Saho Takaya¹, Junwa Kunimatsu², Satoshi Kutsuna¹, Kayoko Hayakawa³, Hirofumi Shibata⁴, Takahiro Yasumi⁴, Norio Ohmagari¹

Affiliations

¹ Disease Control and Prevention Center, National Center for Global Health and Medicine, 1-21-1, Toyama, Shinjuku-ku, Tokyo, 162-8655, Japan.
² Department of General Internal Medicine, National Center for Global Health and Medicine, 1-21-1, Toyama, Shinjuku-ku, Tokyo, 162-8655, Japan.
³ Disease Control and Prevention Center, National Center for Global Health and Medicine, 1-21-1, Toyama, Shinjuku-ku, Tokyo, 162-8655, Japan. Electronic address: kayokohayakawa@gmail.com.
⁴ Department of Pediatrics, Kyoto University Graduate School of Medicine, 54 Shogoin-Kawahara-cho, Sakyo-ku, Kyoto, 606-8507, Japan.

PMID: 31350183
DOI: 10.1016/j.jiac.2019.07.002

Abstract

We report a case of a 27-year old woman with persistent fever and pancytopenia who had multiple episodes of a hemophagocytic lymphohistiocytosis (HLH) like condition. The criterion for HLH was satisfied; primary cytomegalovirus (CMV) infection was identified as the cause. Further examination revealed a GATA binding protein 2 mutation. Reports of GATAs deficiency presenting with HLH after primary CMV infection is very limited. As early recognition and diagnosis will improve patients' outcomes, internists and infectious disease specialists should be aware of this disease.

Keywords: B lymphocytopenia; GATA binding protein 2; Hemophagcytic lymphohistiocytosis; Monocytopenia; NK lymphocytopenia; Primary cytomegalovirus infection.

Publication types

Case Reports

MeSH terms

Adult
Antibodies, Viral / blood
Biopsy / methods
Bone Marrow Examination / methods
C-Reactive Protein / isolation & purification
Cytomegalovirus Infections / complications
Cytomegalovirus Infections / diagnosis*
Cytomegalovirus Infections / genetics
Female
GATA2 Transcription Factor / genetics*
Humans
Lymphohistiocytosis, Hemophagocytic / diagnosis*
Lymphohistiocytosis, Hemophagocytic / etiology
Lymphohistiocytosis, Hemophagocytic / genetics
Mutation

Substances

Antibodies, Viral
GATA2 Transcription Factor
GATA2 protein, human
C-Reactive Protein