Fatal Mycobacterium tilburgii disseminated infection in a patient with cryptic interleukin-12Rβ1 deficiency: A case report
We report the case of an immunocompromised patient with previously unrecognized Mendelian susceptibility to mycobacterial disease due to interleukin-12Rβ1 deficit, who developed fatal disseminated Mycobacterium tilburgii infection. Mycobacterial invasion caused severe neurologic complications, including refractory status epilepticus, leading to death, despite therapies, including surgical interventions.
Authors
- Jean Radermacher (ORCID: https://orcid.org/0000-0002-8305-6864)
- Vanessa Mathys (ORCID: https://orcid.org/0000-0001-5218-927X)
- Raphaël Schils (ORCID: https://orcid.org/0000-0002-2285-2613)
- Giot Jb
- Constance Paquot
- F Frippiat
- S Eon
Institutions
- University of Liège (BE)
- Centre Hospitalier Chrétien (BE)
- Laboratoire National de Référence (MA)
- Centre Hospitalier Universitaire de Liège (BE)
- Sciensano (Belgium) (BE)
Publication Details
- Journal
- International Journal of Infectious Diseases
- Published
- 2026-01-09
- DOI
- https://doi.org/10.1016/j.ijid.2026.108386
- Primary Topic
- Immunodeficiency and Autoimmune Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00