Abstract
Mycobacterium tilburgii rarely causes disseminated disease. We describe a case of M. tilburgii infection in an otherwise healthy 33-year-old woman, who was found to carry bi-allelic mutations of the gene encoding the β1 chain of the IL-12 receptor.
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Al-Herz W, Bousfiha A, Casanova JL, et al. Primary immunodeficiency diseases: An update on the classification from the international union of immunological societies expert committee for primary immunodeficiency. Front Immunol. 2011;2:54.
De Beaucoudrey L, Samarina A, Bustamante J, et al. Revisiting human IL-12Rbeta1 deficiency: A survey of 141 patients from 30 countries. Medicine (Baltimore). 2010;89:381–402.
Filipe-Santos O, Bustamante J, Chapgier A, et al. Inborn errors of IL-12/23-and IFN-gamma-mediated immunity: molecular, cellular, and clinical features. Semin Immunol. 2006;18:347–61.
Bogunovic D, Byun M, Durfee LA, et al. Mycobacterial disease and impaired IFN-gamma immunity in humans with inherited ISG15 deficiency. Science. 2012;337:1684–8.
Bustamante J, Arias AA, Vogt G, et al. Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease. Nat Immunol. 2011;12:213–21.
Hambleton S, Salem S, Bustamante J, et al. IRF8 mutations and human dendritic-cell immunodeficiency. N Engl J Med. 2011;365:127–38.
Fieschi C, Dupuis S, Catherinot E, et al. Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor beta1 deficiency: medical and immunological implications. J Exp Med. 2003;197:527–35.
Boisson-Dupuis S, El Baghdadi J, Parvaneh N, et al. IL-12Rβ1 deficiency in two of fifty children with severe tuberculosis from Iran, Morocco, and Turkey. PLoS One. 2011;6:e18524
Sato M, Hiyama T, Kaito K, Hayashi Y, Okumura T. Usefulness of F-18 FDG PET/CT in the assessment of disseminated Mycobacterium avium complex infection. Ann Nucl Med. 2009;23:757–62.
Altare F, Durandy A, Lammas D, et al. Impairment of mycobacterial immunity in human interleukin-12 receptor deficiency. Science. 1998;280:1432–5.
Wagner D, Vos M, Buiting AG, et al. Mycobacterium tilburgii infections. Emerg Infect Dis. 2006;12:532–4.
Palmore TN, Shea YR, Conville PS, et al. Mycobacterium tilburgii, a newly described, uncultivated opportunistic pathogen. J Clin Microbiol. 2009;47:1585–7.
Kolditz M, Halank M, Spornraft-Ragaller P, Schmidt H, Hoffken G. Localized pulmonary infection associated with Mycobacterium tilburgii in an HIV-infected patient. Infection. 2005;33:278–81.
Richter E, Rusch-Gerdes S, Niemann S, Stoehr A, Plettenberg A. Detection, identification, and treatment of a novel, non-cultivable Mycobacterium species in an HIV patient. AIDS. 2000;14:1667–8.
Hartwig NG, Warris A, van de Vosse E, et al. Mycobacterium tilburgii infection in two immunocompromised children: importance of molecular tools in culture-negative mycobacterial disease diagnosis. J Clin Microbiol. 2011;49:4409–11.
Alangari AA, Al-Zamil F, Al-Mazrou A, et al. Treatment of disseminated mycobacterial infection with high-dose IFN-gamma in a patient with IL-12Rbeta1 deficiency. Clin Dev Immunol. 2011;2011:691956.
Pedraza S, Lezana JL, Samarina A, et al. Clinical disease caused by Klebsiella in 2 unrelated patients with interleukin 12 receptor beta1 deficiency. Pediatrics. 2010;126:e971–6.
Acknowledgments
We would like to thank the patient and her family, whose cooperation were essential for the collection of the data used in this publication. The principal author acknowledges Dr Lucie Seyler for kindly reviewing the manuscript and Esther van de Vosse for sharing data
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Schepers, K., Schandené, L., Bustamante, J. et al. IL-12Rβ1 Deficiency and Disseminated Mycobacterium tilburgii Disease. J Clin Immunol 33, 1285–1288 (2013). https://doi.org/10.1007/s10875-013-9941-y
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DOI: https://doi.org/10.1007/s10875-013-9941-y