Dominant Negative TRAF3 Variant With Recurrent Mycobacterium abscessus Infection and Bronchiectasis

Author:

Liew Mei Fong123,Lim Hui Fang23,Liang Mui Cheng4,Lim Ives56,Tan Zhaohong7,Tan Rachel Ying Min7,Sam Qi Hui78,Soe Win Mar7,Tay Sen Hee39ORCID,Xu Shengli410,Chang Matthew Wook8,Foo Roger36ORCID,Soong Tuck Wah4ORCID,Ravikumar Sharada7,Chai Louis Yi Ann378ORCID

Affiliation:

1. FAST and Chronic Programmes, Alexandra Hospital, National University Health System , Singapore , Singapore

2. Division of Respiratory and Critical Care Medicine, Department of Medicine, National University Hospital, National University Health System , Singapore , Singapore

3. Department of Medicine, Yong Loo Lin School of Medicine, National University of Singapore , Singapore , Singapore

4. Department of Physiology, Yong Loo Lin School of Medicine, National University of Singapore , Singapore , Singapore

5. Bioinformatics Institute, Agency for Science, Technology and Research (A*STAR) , Singapore , Singapore

6. Genome Institute of Singapore, Agency for Science, Technology and Research (A*STAR) , Singapore , Singapore

7. Division of Infectious Diseases, Department of Medicine, National University Health System , Singapore , Singapore

8. Synthetic Biology for Clinical and Technological Innovation (SynCTI), National University of Singapore , Singapore , Singapore

9. Division of Rheumatology, Department of Medicine, National University Health System , Singapore , Singapore

10. Singapore Immunology Network, Agency for Science, Technology and Research (A*Star) , Singapore , Singapore

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.

Publisher

Oxford University Press (OUP)

Subject

Infectious Diseases,Oncology

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