Lethal Tuberculosis in a Previously Healthy Adult with IL-12 Receptor Deficiency |
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| Authors: | Payam Tabarsi Majid Marjani Nahal Mansouri Parisa Farnia Stephanie Boisson-Dupuis Jacinta Bustamante Laurent Abel Parisa Adimi Jean-Laurent Casanova Davood Mansouri |
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| Affiliation: | (1) Mycobacteriology Research Center, Division of Infectious Disease and Clinical Immunology, National Research Institute of Tuberculosis and Lung Diseases, Masih Daneshvari Hospital, Shahid Beheshti University of Medical Sciences, Darabad, Niavaran, Tehran, Iran;(2) St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA;(3) Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Necker Medical School, University Paris Descartes and Inserm U980, Paris, France |
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| 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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