Fatal Mycobacterium tilburgii disseminated infection in a patient with cryptic interleukin-12Rβ1 deficiency: A case report

Int J Infect Dis. 2026 Mar:164:108386. doi: 10.1016/j.ijid.2026.108386. Epub 2026 Jan 8.

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.

Keywords: Fatal infection; IL12Rβ1 deficit; Mendelian susceptibility to mycobacterial disease; Mycobacterium tilburgii.

Publication types

  • Case Reports

MeSH terms

  • Fatal Outcome
  • Genetic Predisposition to Disease
  • Humans
  • Immunocompromised Host
  • Male
  • Mycobacterium Infections* / microbiology
  • Mycobacterium Infections, Nontuberculous* / microbiology
  • Mycobacterium* / isolation & purification
  • Receptors, Interleukin-12* / deficiency
  • Receptors, Interleukin-12* / genetics

Substances

  • Receptors, Interleukin-12
  • IL12RB1 protein, human