Blau syndrome (BS) is an auto-inflammatory granulomatous disease that possibly involves abnormal response to interferon gamma (IFNγ) due to exaggerated nucleotide-binding oligomerization domain containing 2 (NOD2) activity. Mendelian susceptibility to mycobacterial diseases (MSMD) is an infectious granulomatous disease that is caused by impaired production of or response to IFNγ. We report a mother and daughter who are both heterozygous for NOD2c.2264C˃T variant and dominant-negative IFNGR1818del4 mutation. The 17-year-old patient displayed an altered form of BS and milder form of MSMD, whereas the 44-year-old mother was completely asymptomatic. This experiment of nature supports the notion that IFNγ is an important driver of at least some BS manifestations and that elucidation of its involvement in the disease immunopathogenesis may identify novel therapeutic targets.

中文翻译：

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NOD2相关的Blau综合征和IFNγR1缺乏的相互改变。

Blau 综合征 (BS) 是一种自身炎症性肉芽肿性疾病，由于含有 2 (NOD2) 活性的核苷酸结合寡聚结构域过大，可能涉及对干扰素 γ (IFNγ) 的异常反应。孟德尔分枝杆菌病易感性 (MSMD) 是一种传染性肉芽肿病，由 IFNγ 的产生或反应受损引起。我们报告了一对母女，他们都是 NOD2c.2264C˃T 变异和显性阴性 IFNGR1818del4 突变的杂合子。这位 17 岁的患者表现出一种改变形式的 BS 和更轻微的 MSMD 形式，而 44 岁的母亲则完全没有症状。