4.7 Article

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

期刊

CLINICAL INFECTIOUS DISEASES
卷 49, 期 6, 页码 E62-E65

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OXFORD UNIV PRESS INC
DOI: 10.1086/605532

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资金

  1. Canadian Institutes of Health Research (CIHR)
  2. Division of Intramural Research
  3. National Institute of Allergy and Infectious Diseases
  4. NIH
  5. US Department of Veterans Affairs

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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.

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