Refractory Disseminated Coccidioidomycosis and Mycobacteriosis in Interferon-γ Receptor 1 Deficiency

被引:88
作者
Vinh, Donald C. [1 ]
Masannat, Fares [2 ,3 ]
Dzioba, Robert B. [4 ]
Galgiani, John N. [2 ,3 ]
Holland, Steven M. [1 ]
机构
[1] NIAID, Immunopathogenesis Sect, Lab Clin Infect Dis, NIH, Bethesda, MD 20892 USA
[2] Univ Arizona, Coll Med, Valley Fever Ctr Excellence, Tucson, AZ USA
[3] So Arizona Vet Adm Hlth Care Syst, Tucson, AZ USA
[4] Univ Med Ctr, Tucson, AZ USA
基金
加拿大健康研究院;
关键词
IFN-GAMMA; AUTOANTIBODIES; SUSCEPTIBILITY; TUBERCULOSIS; PATIENT; POLYMORPHISMS; ASSOCIATION; INFECTIONS; RESISTANCE; IMMITIS;
D O I
10.1086/605532
中图分类号
R392 [医学免疫学]; Q939.91 [免疫学];
学科分类号
100102 ;
摘要
Severe coccidioidomycosis is rare, and specific genetic susceptibility to the disease remains unidentified. We describe a patient with disseminated recalcitrant coccidioidomycosis with autosomal dominant interferon-gamma receptor 1 deficiency caused by a heterozygous IFNGR1 818del4 mutation. Therefore, the interleukin-12/interferon-gamma axis appears to be critical for control of coccidioidomycosis.
引用
收藏
页码:E62 / E65
页数:4
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