Vinh Donald C, Masannat Fares, Dzioba Robert B, Galgiani John N, Holland Steven M
Immunopathogenesis Section, Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland 20892-1684, USA.
Clin Infect Dis. 2009 Sep 15;49(6):e62-5. doi: 10.1086/605532.
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.
重症球孢子菌病较为罕见，且该疾病的特定遗传易感性仍未明确。我们描述了一名患有播散性难治性球孢子菌病的患者，其因杂合性IFNGR1 818del4突变导致常染色体显性干扰素-γ受体1缺乏。因此，白细胞介素-12/干扰素-γ轴似乎对控制球孢子菌病至关重要。
