[en] 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.
Disciplines :
Immunology & infectious disease
Author, co-author :
EON, Sophie ; Centre Hospitalier Universitaire de Liège - CHU > > Frais communs médecine - Pool assistants
Giot, Jean-Baptiste ; Université de Liège - ULiège > Département des sciences cliniques > Infectiologie
Frippiat, Frédéric ; Université de Liège - ULiège > Département des sciences cliniques > Infectiologie
Mathys, V; National Reference Centre Mycobacterium, Bacterial Diseases Service, Sciensano, Brussels, Belgium
Radermacher, J; Department of Pathology, MontLégia Hospital, Liège, Belgium
PAQUOT, Constance ; Centre Hospitalier Universitaire de Liège - CHU > > Service de médecine interne générale et immunologie
Schils, Raphael ; Université de Liège - ULiège > Département des sciences cliniques > Immunopathologie - Maladies infectieuses et médecine interne générale
Language :
English
Title :
Fatal Mycobacterium tilburgii disseminated infection in a patient with cryptic IL12Rβ1 deficiency : A case report.
Bustamante J, Boisson-Dupuis S, Abel L, Casanova JL. Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity. Semin Immunol 2014;26:454–70. 10.1016/j.smim.2014.09.008.
Errami A, El Baghdadi J, Ailal F, Benhsaien I, Ouazahrou K, Abel L, et al. Mendelian susceptibility to mycobacterial disease: an overview. Egypt J Med Hum Genet 2023;24:1–9. 10.1186/s43042-022-00358-x.
Khavandegar A, Mahdaviani SA, Zaki-Dizaji M, Khalili-Moghaddam F, Ansari S, Alijani S, et al. Genetic, immunologic, and clinical features of 830 patients with Mendelian susceptibility to mycobacterial diseases (MSMD): a systematic review. J Allergy Clin Immunol 2024;153:1432–44. 10.1016/j.jaci.2024.01.021.
Van de Vosse E, Haverkamp MH, Ramirez-Alejo N, Martinez-Gallo M, Blancas-Galicia L, et al. IL-12Rβ1 deficiency: mutation update and description of the IL12RB1 variation database. Hum Mutat 2013;34:1329–39. 10.1002/humu.22380.
Yuan M, Dong G, Han N, Yan L, Tang H. Disseminated Mycobacterium tilburgii infection in a person with AIDS: a case report. Heliyon 2024;10:e35616. 10.1016/j.heliyon.2024.e35616.
Akpinar T, Bakkaloglu OK, Ince B, Tufan F, Kose M, Poda M, et al. Case report of fatal Mycobacterium tilburgii infection. J Infect Chemother 2015;21:538–40. 10.1016/j.jiac.2015.02.006.
ten Doesschate TM, Meinders AJ, Voorn GP, Kummer JA, Moeniralam H. Hyperammonemia as a manifestation of Mycobacterium tilburgii infection: a case report. Infect Dis Clin Pract 2018;26:e28–30. 10.1097/IPC.0000000000000586.
Van Gyse M, Thomeer M, Vankeerberghen A, De Beenhouwer H, Stessens L, Oris E, et al. Disseminated Mycobacterium tilburgii infection in a non-HIV-infected patient. Clin Microbiol Newsl 2007;29:62–4. 10.1016/j.clinmicnews.2007.04.002.
Schepers K, Schandené L, Bustamante J, Van Vooren JP, De Suremain M, Casanova JL, et al. IL-12Rβ1 deficiency and disseminated Mycobacterium tilburgii disease. J Clin Immunol 2013;33:1285–8. 10.1007/s10875-013-9941-y.
Temmerman S, Vandekerckhove L, Sermijn E, Vogelaers D, Claeys G, Vaneechoutte M, et al. Disseminated infection with Mycobacterium tilburgii in a male immunocompromised patient. J Clin Microbiol 2014;52:1777–9. 10.1128/JCM.03148-13.
Heyckendorf J, Aries SP, Greinert U, Richter E, Schultz H, Lange C. Functional immune reconstitution by interleukin-2 adjunctive therapy for HIV/mycobacterial co-infection. Emerg Infect Dis 2015;21:1685–7. 10.3201/eid2109.150461.
Dalvi A, Bargir UA, Natraj G, Shah I, Madkaikar M. Diagnosis and management of infections in patients with Mendelian susceptibility to mycobacterial disease. Pathogens 2024;13:203. 10.3390/pathogens13030203.
