Abstract
A 33-year-old man was admitted in hospital due to fever, generalized lymphadenopathy, and hepatosplenomegaly. He had a history of anti-tuberculosis treatment in the previous 3 years. Despite normal chest radiograph, a sputum sample was smear-positive for acid-fast bacilli, and polymerase chain reaction was positive for Mycobacterium tuberculosis complex. Drug susceptibility test revealed resistance to isoniazid and rifampin. Evaluation of the patient’s immune system revealed IL-12Rβ1 deficiency. The patient died of disseminated tuberculosis (TB), despite appropriate antibiotic treatment. This is the first IL-12 receptor-deficient patient presenting with disseminated TB in adulthood, without any previous relevant medical history. This diagnosis should be considered in selected adult patients with unexplained, overwhelming TB. IL-12Rβ1 deficiency is a genetic etiology of severe TB in adults and should be considered in adult patients with disseminated TB.
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References
LoBue PA, Enarson DA, Thoen CO. Tuberculosis in humans and animals: an overview. Int J Tuberc Lung Dis. 2010;14(9):1075–8.
WHO. Global Tuberculosis control. Surveillance, planning, financing. Geneva WHO/HTM/TB/2006:362.
Hasibi M, Rasoulinejad M, Hosseini SM, et al. Epidemiological, clinical, laboratory findings and outcome of disseminated tuberculosis in Tehran, Iran. South Med J. 2008;101(9):910–3.
Casanova JL, Abel L. Genetic dissectionof Immunity to mycobacteria: the human model. Annu Rev Immunol. 2002;20:581–620.
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(6):347–61.
Ozbek N, Fieschi C, Yilmaz BT, et al. Interleukin-12 receptor beta 1 chain deficiency in a child with disseminated tuberculosis. Clin Infect Dis. 2005;40:e55–8.
Casanova JL, Abel L. Primary immunodeficiencies: a field in its infancy. Science. 2007;317(5838):617–9.
Altare F, Ensser A, Breiman A, et al. Interleukin-12 receptor beta1 deficiency in a patient with abdominal tuberculosis. J Infect Dis. 2001;184:231–6.
Caragol I, Raspall M, Fieschi C, et al. Clinical tuberculosis in 2 of 3 siblings with interleukin-12 receptor beta1 deficiency. Clin Infect Dis. 2003;37:302–6.
De Beaucoudrey L, Samarina A, Bustamante J, et al. Revisiting human IL-12 Rβ1 deficiency: a survey of 141 patients from 30 countries. Medicine (Baltimore). 2010;89(6):381–402.
Matteelli A, Richardson MD, Sotgiu G, Centis R, Migliori GB. Multidrug-and extensively drug-resistant TB in persons living with HIV. Expert Rev Respir Med. 2009;3(3):245–54.
Tabarsi P, Chitsaz E, Baghaei P, et al. Impact of extensively drug resistant tuberculosis on treatment outcome of multi-drug resistant tuberculosis patients with standardized regimen: report from Iran. Microb Drug Resist. 2010;16(1):81–6.
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Tabarsi, P., Marjani, M., Mansouri, N. et al. Lethal Tuberculosis in a Previously Healthy Adult with IL-12 Receptor Deficiency. J Clin Immunol 31, 537–539 (2011). https://doi.org/10.1007/s10875-011-9523-9
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DOI: https://doi.org/10.1007/s10875-011-9523-9