<i>Mycobacterium intracellulare</i> Infection in a Japanese Patient with Signal Transducer and Activator of Transcription-3 Gain-of-Function Syndrome: A Case Report

Signal transducer and activator of transcription-3 (STAT3) gain-of-function (GOF) syndrome predisposes patients to autoimmunity diseases. Yet, nontuberculous mycobacterial (NTM) infections have rarely been described. We herein report a teenage Japanese patient with genetically confirmed STAT3-GOF syndrome who developed Mycobacterium intracellulare disease. Combination antimycobacterial chemotherapy reduced the bacterial burden; however, the refractory NTM infection relapsed after initiation of adjunctive tofacitinib therapy. The present case demonstrates that host-directed therapy must be combined with prolonged antimycobacterial regimens to control drug-resistant NTM in patients with inborn errors of immunity.

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Journal
Internal Medicine
Published
2025-01-01
DOI
https://doi.org/10.2169/internalmedicine.6174-25
Primary Topic
Mycobacterium research and diagnosis
Type
article
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article

Mycobacterium intracellulare Infection in a Japanese Patient with Signal Transducer and Activator of Transcription-3 Gain-of-Function Syndrome: A Case Report

Yoji Hirai, Kosei Hasegawa, Hideharu Hagiya, Masato Yashiro et al.
Internal Medicine
Mycobacterium research and diagnosis
article

Mycobacterium intracellulare Infection in a Japanese Patient with Signal Transducer and Activator of Transcription-3 Gain-of-Function Syndrome: A Case Report

Yoji Hirai, Kosei Hasegawa, Hideharu Hagiya, Masato Yashiro, Kazuki Tokumasu, Yuki Otsuka, Yoshiaki Soejima, Fumio Otsuka, Kazuhiro Uda, Yusuke Shiode, Shinnosuke Fukushima, Kohei Oguni, Kenta Nakamoto, K. IIO, Marina Kawaguchi
article en

Abstract

Signal transducer and activator of transcription-3 (STAT3) gain-of-function (GOF) syndrome predisposes patients to autoimmunity diseases. Yet, nontuberculous mycobacterial (NTM) infections have rarely been described. We herein report a teenage Japanese patient with genetically confirmed STAT3-GOF syndrome who developed Mycobacterium intracellulare disease. Combination antimycobacterial chemotherapy reduced the bacterial burden; however, the refractory NTM infection relapsed after initiation of adjunctive tofacitinib therapy. The present case demonstrates that host-directed therapy must be combined with prolonged antimycobacterial regimens to control drug-resistant NTM in patients with inborn errors of immunity.

Internal Medicine
Okayama University (JP), Okayama University Hospital (JP)
Openalex Percentile: Top 63%
Mycobacterium research and diagnosis
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<i>Mycobacterium intracellulare</i> Infection in a Japanese Patient with Signal Transducer and Activator of Transcription-3 Gain-of-Function Syndrome: A Case Report — Yoji Hirai, Kosei Hasegawa, et al. · Internal Medicine (2025) | TGRS Research Map | TGRS