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.
J Clin Immunol. 2011 Aug;31(4):537-9. doi: 10.1007/s10875-011-9523-9. Epub 2011 Apr 13.
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.
一位 33 岁男性因发热、全身淋巴结肿大和肝脾肿大而入院。他在过去 3 年内有抗结核治疗史。尽管胸部 X 光正常，但痰标本抗酸杆菌涂片阳性，聚合酶链反应检测结核分枝杆菌复合体阳性。药物敏感性试验显示对异烟肼和利福平耐药。对患者免疫系统的评估显示白细胞介素 12 受体β 1 缺陷。尽管给予了适当的抗生素治疗，该患者仍死于播散性结核病（TB）。这是首例成年患者表现为播散性 TB 且无任何先前相关病史的 IL-12 受体缺陷患者。对于原因不明的严重 TB 患者，应考虑这种诊断。IL-12Rβ1 缺陷是成人严重 TB 的遗传病因，对于播散性 TB 患者应考虑这种病因。
