Division of Rheumatology, Mayo Clinic, Rochester, MN, United States.
Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, MN, United States.
Front Immunol. 2024 Oct 4;15:1304792. doi: 10.3389/fimmu.2024.1304792. eCollection 2024.
The aim of this study was to characterize the phenotype and genotype of patients with Yao syndrome (YAOS), with focus on comparing to prior cohorts, identifying novel features, and describing treatment observations.
A retrospective medical records review of patients with YAOS seen at Mayo Clinic was conducted to characterize clinical features, genotypes, and therapeutic trials and responses.
Twenty-two patients diagnosed with YAOS were included. Eighteen patients (81.8%) were female and twenty (90.9%) were White. Mean age at symptom onset was 24.0 ± 14.8 years. Common clinical manifestations included fever (81.8% of patients), rash (95.5%), chronic gastrointestinal symptoms (100%), arthralgia/arthritis (95.5%), and sicca symptoms (68.2%). genotypes as single variants included IVS8 + 158 in 14 patients (63.6%), R702W in 8 patients (36.4%), 1007fs in 4 (18.2%), and one patient had only a previously unreported rare variant. Eight patients (36.4%) had compound (two or more) variants. Potential comorbidities of YAOS observed in this cohort included gastrointestinal dysmotility, autonomic dysfunction, and mast cell activation-like symptoms. Glucocorticoid responsiveness was observed in 15 of 20 patients exposed (75%). Eleven patients (50.0%) received IL-1 inhibitor therapy, and one patient (4.5%) received IL-6 inhibitor therapy with adequate disease control.
Our findings substantiate the occurrence of fevers, arthralgia/arthritis, rash, chronic gastrointestinal symptoms, and sicca-like symptoms described previously in patients with YAOS. Novel clinical features and one variant not previously described were identified. Glucocorticoids, biologic IL-1 inhibitors, and IL-6 receptor inhibitors appeared to be effective for treatment of patients with YAOS.
本研究旨在对 Yao 综合征（YAOS）患者的表型和基因型进行特征描述，重点是与既往队列进行比较，确定新的特征，并描述治疗观察结果。
对在 Mayo 诊所就诊的 Yao 综合征患者的病历进行回顾性研究，以描述其临床特征、基因型和治疗试验及反应。
共纳入 22 例诊断为 Yao 综合征的患者。18 例（81.8%）为女性，20 例（90.9%）为白人。症状发作的平均年龄为 24.0±14.8 岁。常见的临床表现包括发热（81.8%的患者）、皮疹（95.5%）、慢性胃肠道症状（100%）、关节炎/关节痛（95.5%）和干燥综合征样症状（68.2%）。作为单一变异的基因型包括 14 例（63.6%）患者的 IVS8+158、8 例（36.4%）患者的 R702W、4 例（18.2%）患者的 1007fs 以及 1 例患者仅存在先前未报道的罕见变异。8 例（36.4%）患者存在复合（两种或更多）变异。本研究队列中观察到的 Yao 综合征的潜在合并症包括胃肠道动力障碍、自主神经功能障碍和肥大细胞激活样症状。在接受治疗的 20 例患者中，有 15 例（75%）对糖皮质激素有反应。11 例（50.0%）患者接受白细胞介素-1 抑制剂治疗，1 例（4.5%）患者接受白细胞介素-6 受体抑制剂治疗，病情得到控制。
本研究结果证实了 Yao 综合征患者之前描述的发热、关节炎/关节痛、皮疹、慢性胃肠道症状和干燥综合征样症状的发生。确定了新的临床特征和一种以前未描述的变异。糖皮质激素、生物白细胞介素-1 抑制剂和白细胞介素-6 受体抑制剂似乎对 Yao 综合征患者的治疗有效。
