Abstract：
Keratitis-ichthyosis-deafness (KID) syndrome is a rare genodermatosis. It is mostly associated with mutations of the connexin 26 gene, resulting in keratitis, erythrokeratoderma and neurosensory deafness. In addition to the clinical triad, the KID syndrome patients are at high risk for infectious complications, while the mechanisms are poorly understood. In the present article, we described an Asian case of KID syndrome accompanied by fungal infection. The present study was designed to define the mutation type, and further to explore the interaction between the innate immunity response and the infectious complication of KID syndrome. Genomic DNA was extracted from peripheral blood for mutation analysis. Isolation and identification of the species were carried out to confirm the infectious microorganism. Three biopsy specimens from different parts of the body (right thigh, abdomen and forehead, respectively) were carried out for histopathological and immunohistochemical analysis. Furthermore, quantitative polymerase chain reaction (PCR) was carried out to study the expression of Toll-like receptor 2 (TLR2) on the epidermis of the right thigh. We identified a mutation (p.G12R) in the GJB2 gene in this patient with Trichophyton rubrum infection. Immunohistochemistry staining revealed a lower expression of TLR2 and no significant difference in TLR4. Meanwhile, PCR showed a relatively slight increase of TLR2 RNA expression. These results indicated that GJB2 mutation (p.G12R) in this case of KID syndrome, which was susceptible to T. rubrum infection, might be attributed to a limited native immune response.
摘要：
角膜炎-鱼鳞病-耳聋（KID）综合征是一种罕见的遗传性皮肤病。它主要与连接蛋白26基因的突变有关，导致角膜炎，红斑角化病和神经感觉性耳聋。除了临床三合会，KID综合征患者感染并发症的风险很高，而机制却知之甚少。在本文中,我们描述了一例亚洲KID综合征伴真菌感染的病例.本研究旨在定义突变类型，并进一步探讨先天免疫反应与KID综合征感染性并发症之间的相互作用。从外周血中提取基因组DNA用于突变分析。进行物种的分离和鉴定以确认感染性微生物。来自身体不同部位的三个活检标本（右大腿，腹部和前额，分别进行组织病理学和免疫组织化学分析。此外，采用定量聚合酶链反应(PCR)方法研究Toll样受体2(TLR2)在右大腿表皮的表达。我们确定了一个突变（p。G12R）在该患有红色毛癣菌感染的患者的GJB2基因中。免疫组织化学染色显示TLR2的表达较低，而TLR4的表达无明显差异。同时,PCR显示TLR2RNA表达相对轻微的增加。这些结果表明GJB2突变（p。G12R)在这种情况下，容易感染红斑酵母，可能归因于有限的天然免疫反应。
