Article
Fatal Mycobacterium tilburgii disseminated infection in a patient with cryptic interleukin-12Rβ1 deficiency: A case report.
International journal of infectious diseases : IJID : official publication of the International Society for Infectious Diseases - 1 Mar 2026
Eon Sophie, Giot Jean Baptiste, Frippiat Frederic, Mathys Vanessa, Radermacher Jean, Paquot Constance, Schils Raphael
Abstract excerpt
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.
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