Refractory Mycobacterium genavense infection secondary to thymoma-associated endogenous IL-12 inhibitor

Jessie Chen; MaiAnh Nguyen; Elaine Cheong; D Sean Riminton; Stephen Reddel

doi:10.1136/bmjno-2022-000285

Refractory Mycobacterium genavense infection secondary to thymoma-associated endogenous IL-12 inhibitor

BMJ Neurol Open. 2022 May 18;4(1):e000285. doi: 10.1136/bmjno-2022-000285. eCollection 2022.

Authors

Jessie Chen¹, MaiAnh Nguyen², Elaine Cheong³, D Sean Riminton², Stephen Reddel^{1

4}

Affiliations

¹ Department of Neurology, Concord Repatriation General Hospital, Concord, New South Wales, Australia.
² Department of Immunology, Concord Repatriation General Hospital, Concord, New South Wales, Australia.
³ Department of Infectious Diseases and Microbiology, Concord Repatriation General Hospital, Concord, New South Wales, Australia.
⁴ Brain and Mind Centre, The University of Sydney, Sydney, NSW, Australia.

Abstract

Case: A 39-year-old man with thymoma-associated acetylcholine receptor antibody myasthenia gravis (MG) presented with fevers, night sweats, abdominal pain and weight loss. Marked splenomegaly and intra-abdominal lymphadenopathy were found. Biopsies confirmed disseminated Mycobacterium genavense infection. Despite antimicrobials and reduced immunosuppressive medications, he worsened. We suspected a thymoma-associated cytokine inhibitory antibody. The addition of subcutaneous interferon-gamma (IFN-γ) induced clinical and radiological improvement. His antimicrobials were able to be ceased. MG remained stable. Subsequent testing demonstrated an endogenous interleukin-12 (IL-12) inhibitor, likely inhibiting the IL-12/IFN-γ axis crucial for defence against mycobacterial infections.

Discussion: This case illustrates the autoimmune manifestations that can occur with thymoma. It illustrates the benefit of exogenous IFN-γ in overcoming the immune deficit. In this case, its use did not exacerbate existing autoimmune disease or trigger others. We raise awareness of the need to consider cytokine pathway defects as a contributing factor to refractory atypical infections in patients with thymoma-associated MG.

Keywords: INTERFERON; MYASTHENIA.