Fatal Mycobacterium tilburgii disseminated infection in a patient with cryptic interleukin-12Rβ1 deficiency: A case report
S Eon, Giot Jb, Frédéric Frippiat, Vanessa Mathys, Jean Radermacher, Constance Paquot, Raphaël Schils
International Journal of Infectious Diseases · 2026-01
Abstract
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.
MeSH terms
- Medicine
- Disease
- Mycobacterium
- Mycobacterium tuberculosis complex
- Immunology
- Mycobacterium avium complex
- Tuberculosis
- Refractory (planetary science)
- Mycobacterium tuberculosis