| Title: |
Fatal Mycobacterium tilburgii disseminated infection in a patient with cryptic IL12Rβ1 deficiency : A case report. |
| Authors: |
EON, Sophie; Giot, Jean-Baptiste; Frippiat, Frédéric; Mathys, V; Radermacher, J; PAQUOT, Constance; Schils, Raphael |
| Source: |
International Journal of Infectious Diseases, 108386 (2026-01-08) |
| Publisher Information: |
Elsevier BV |
| Publication Year: |
2026 |
| Collection: |
University of Liège: ORBi (Open Repository and Bibliography) |
| Subject Terms: |
IL12Rβ1 deficit; Mendelian susceptibility to Mycobacterial disease; Mycobacterium tilburgii; fatal infection; Human health sciences; Immunology & infectious disease; Sciences de la santé humaine; Immunologie & maladie infectieuse |
| Description: |
peer reviewed ; We report the case of an immunocompromised patient with - previously unrecognized - Mendelian susceptibility to Mycobacterial disease (MSMD) due to IL12Rβ1 deficit, who developed fatal disseminated Mycobacterium tilburgii infection. Mycobacterial invasion caused severe neurological complications, including refractory status epilepticus, leading to death despite therapies including surgical interventions. |
| Document Type: |
article in journal/newspaper |
| Language: |
English |
| ISSN: |
1201-9712; 1878-3511 |
| Relation: |
https://api.elsevier.com/content/article/PII:S1201971226000214?httpAccept=text/xml; urn:issn:1201-9712; urn:issn:1878-3511; https://orbi.uliege.be/handle/2268/342075; info:hdl:2268/342075; https://orbi.uliege.be/bitstream/2268/342075/1/Article%20Mycobacterium.pdf; info:pmid:41519375 |
| DOI: |
10.1016/j.ijid.2026.108386 |
| Availability: |
https://orbi.uliege.be/handle/2268/342075; https://orbi.uliege.be/bitstream/2268/342075/1/Article%20Mycobacterium.pdf; https://doi.org/10.1016/j.ijid.2026.108386 |
| Rights: |
open access ; http://purl.org/coar/access_right/c_abf2 ; info:eu-repo/semantics/openAccess |
| Accession Number: |
edsbas.46BBA82A |
| Database: |
BASE |