Lethal Tuberculosis in a Previously Healthy Adult with IL-12 Receptor Deficiency

被引：42

作者：

Tabarsi, Payam ^{[1
]}

Marjani, Majid ^{[1
]}

Mansouri, Nahal ^{[1
,2
]}

Farnia, Parisa ^{[1
]}

Boisson-Dupuis, Stephanie ^{[2
,3
,4
]}

Bustamante, Jacinta ^{[3
,4
]}

Abel, Laurent ^{[2
,3
,4
]}

Adimi, Parisa ^{[1
]}

Casanova, Jean-Laurent ^{[2
,3
,4
]}

Mansouri, Davood ^{[1
]}

机构：

[1] Shahid Beheshti Univ Med Sci, Masih Daneshvari Hosp, Natl Res Inst TB & Lung Dis, Mycobacteriol Res Ctr,Div Infect Dis & Clin Immun, Darabad, Niavaran Tehran, Iran

[2] Rockefeller Univ, St Giles Lab Human Genet Infect Dis, Rockefeller Branch, New York, NY 10021 USA

[3] Univ Paris 05, Necker Med Sch, Necker Branch, Lab Human Genet Infect Dis, Paris, France

[4] INSERM, U980, Paris, France

来源：

JOURNAL OF CLINICAL IMMUNOLOGY | 2011年 / 31卷 / 04期

关键词：

TB-IL-12 R Deficiency; BETA-1; DEFICIENCY; IMMUNITY; IRAN;

D O I：

10.1007/s10875-011-9523-9

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

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-12R beta 1 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-12R beta 1 deficiency is a genetic etiology of severe TB in adults and should be considered in adult patients with disseminated TB.

引用

页码：537 / 539

页数：3

共 12 条

[11] Interleukin-12 receptor β1 chain deficiency in a child with disseminated tuberculosis [J].