Inherited disorders of the IL-12-IFN-γ axis in patients with disseminated BCG infection

被引:64
作者
Mansouri, D
Adimi, P
Mirsaeidi, M
Mansouri, N
Khalilzadeh, S
Masjedi, MR
Adimi, P
Tabarsi, P
Naderi, M
Filipe-Santos, O
Vogt, G
de Beaucoudrey, L
Bustamante, J
Chapgier, A
Feinberg, J
Velayati, AA
Casanova, JL
机构
[1] Shahid Beheshti Univ Med Sci, Natl Res Inst TB & Lung Dis, Div Infect Dis & Clin Immunol, Tehran, Iran
[2] Zahedan Univ Med Sci, Bou Ali Hosp, Zahedan, Iran
[3] Univ Paris 05, Necker Med Sch, Lab Human Genet Infect Dis, Paris, France
关键词
BCG; immunodeficiency; interferon-beta; interleukin-12; Salmonella;
D O I
10.1007/s00431-005-1689-9
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
Disseminated BCG infection is a rare complication of vaccination that occurs in patients with impaired immunity. In recent years, a series of inherited disorders of the IL-12-IFN-gamma axis have been described that predispose affected individuals to disseminated disease caused by BCG, environmental Mycobacteria, and non-typhoidal Salmonella. The routine immunological work-up of these patients is normal and the diagnosis requires specific investigation of the IL-12-IFN-gamma circuit. We report here the first two such patients originating from and living in Iran. The first child is two years old and suffers from complete IFN-gamma receptor 2 deficiency and disseminated BCG infection. He is currently in clinical remission thanks to prolonged multiple antibiotic therapy. The other, a 28-year-old adult, suffers from IL-12p40 deficiency and presented with disseminated BCG infection followed by recurrent episodes of systemic salmonellosis. He is now doing well. A third patient of Iranian descent, living in North America, was reported elsewhere to suffer from IL-12R beta 1 deficiency. These three patients thus indicate that various inherited defects of the IL-12-IFN-gamma circuit can be found in Iranian people. In conclusion we recommend to consider the disorders of the IL-12-IFN-gamma circuit in all patients with severe BCG infection, disseminated environmental mycobacterial disease, or systemic non-typhoidal salmonellosis, regardless of their ethnic origin and country of residence.
引用
收藏
页码:753 / 757
页数:5
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