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Oxford University Press, Open Forum Infectious Diseases, 8(9), 2022

DOI: 10.1093/ofid/ofac379

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Dominant Negative TRAF3 Variant With Recurrent Mycobacterium abscessus Infection and Bronchiectasis

Journal article published in 2022 by Mei Fong Liew, Hui Fang Lim, Mui Cheng Liang, Ives Lim, Zhaohong Tan, Rachel Ying Min Tan, Qi Hui Sam, Win Mar Soe, Sen Hee Tay ORCID, Shengli Xu, Matthew Wook Chang, Roger Foo ORCID, Tuck Wah Soong ORCID, Sharada Ravikumar, Louis Yi Ann Chai ORCID
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

Abstract Host factors leading to pulmonary nontuberculous mycobacteria (PNTM) disease are poorly understood compared with disseminated NTM disease, which is linked to the interleukin 12–interferon gamma signaling pathway. We investigated the tumor necrosis factor receptor associated factor 3 (TRAF3) R338W variant in a patient with recurrent PNTM infection, demonstrating TRAF3- and TNF-α-deficient phenotypes via ex vivo immune and cloning-transfection cellular studies.