There is scarce literature about autoinflammation in syndromic patients. We describe a patient who, in addition to psychomotor and growth delay, presented with fevers, neutrophilic dermatosis, and recurrent orogenital ulcers. Comparative Genomic Hybridization (CGH) array permitted to identify a 13.13Mb deletion on chromosome 6, encompassing 53 genes, and including TNFAIP3 gene (A20). A20 is a potent inhibitor of the NF-kB signalling pathway and restricts inflammation via its deubiquitinase activity. Western blotting and immunoprecipitation assays showed decreased A20 expression and increased phosphorylation of p65 and IkBa. Patient’s cells displayed increased levels of total K63-linked ubiquitin and increased levels of ubiquitinated RIP and NEMO after stimulation with TNF. We describe the molecular characterization of an autoinflammatory disease due to a large chromosomal deletion and review the phenotypes of patients with A20 haploinsufficiency. CGH arrays should be the first diagnostic method for comprehensive analysis of patients with syndromic features and immune dysregulation.

综合征患者自发炎症的文献很少。我们描述了除了精神运动和生长迟缓外，还伴有发烧，中性粒细胞性皮肤病和复发性生殖器溃疡的患者。比较基因组杂交（CGH）阵列可以鉴定6号染色体上的13.13Mb缺失，涵盖53个基因，包括TNFAIP3基因（A20）。A20是NF-kB信号通路的有效抑制剂，并通过其去泛素酶活性来限制炎症。Western印迹和免疫沉淀分析表明，A20表达降低，p65和IkBa磷酸化增加。TNF刺激后，患者的细胞显示出K63连接的泛素总水平增加，泛素化的RIP和NEMO水平升高。我们描述了由于大的染色体缺失而引起的自身炎症性疾病的分子特征，并回顾了具有A20单倍剂量不足的患者的表型。CGH阵列应该是对具有综合征特征和免疫功能异常的患者进行综合分析的首个诊断方法。