Novel mutation in the interferon-γ-receptor gene and susceptibility to mycobacterial infections

被引：25

作者：

Storgaard, M.

Varming, K.

Herlin, T.

Obel, N.

机构：

[1] Odense Univ Hosp, Dept Infect Dis, DK-6500 Odense, Denmark

[2] Aalborg Hosp, Dept Clin Immunol, Aalborg, Denmark

[3] Arhus Univ Hosp, Dept Paediat, Aarhus, Denmark

[4] Aarhus Univ Hosp, Dept Infect Dis, DK-8000 Aarhus, Denmark

来源：

SCANDINAVIAN JOURNAL OF IMMUNOLOGY | 2006年 / 64卷 / 02期

关键词：

D O I：

10.1111/j.1365-3083.2006.01775.x

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

In 1981 we presented a patient with Mycobacterium intracellulare osteomyelitis and depressed monocyte cytotoxicity. It is now demonstrated that the molecular defect was a never-before-described nucleotide deletion at position 794 (794delT) in the interferon-gamma-receptor alpha-1 gene. The genetic defect was passed on to his daughter who was diagnosed with non-tuberculous mycobacterial osteomyelitis at the age of 7 years.

引用

收藏

页码：137 / 139

页数：3

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