title: Lethal tuberculosis in a previously healthy adult with IL-12 receptor deficiency.
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.
authors.affiliation: 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.
authors.forename: Payam
authors.initials: P
authors.lastname: Tabarsi
authors.forename: Majid
authors.initials: M
authors.lastname: Marjani
authors.forename: Nahal
authors.initials: N
authors.lastname: Mansouri
authors.forename: Parisa
authors.initials: P
authors.lastname: Farnia
authors.forename: Stephanie
authors.initials: S
authors.lastname: Boisson-Dupuis
authors.forename: Jacinta
authors.initials: J
authors.lastname: Bustamante
authors.forename: Laurent
authors.initials: L
authors.lastname: Abel
authors.forename: Parisa
authors.initials: P
authors.lastname: Adimi
authors.forename: Jean-Laurent
authors.initials: JL
authors.lastname: Casanova
authors.forename: Davood
authors.initials: D
authors.lastname: Mansouri
mesh_terms: D000328:Adult; D024901:Drug Resistance, Multiple, Bacterial; D017809:Fatal Outcome; D006801:Humans; D008297:Male; D008826:Microbial Sensitivity Tests; D053707:Receptors, Interleukin-12 / Q000172:deficiency* / Q000235:genetics*; D014376:Tuberculosis / Q000175:diagnosis / Q000188:drug therapy / Q000276:immunology*
chemical_list: D053707:Receptors, Interleukin-12