Systemic autoinflammatory diseases (SAIDs) represent a spectrum of genetically heterogeneous inflammatory disorders. Some SAID-associated genes are located in chromosome 16, including familial Mediterranean fever gene (MEFV) and nucleotide-binding oligomerization domain 2 [NOD2] gene that are linked to Crohn's disease, Blau syndrome, and Yao syndrome. These disorders share overlapping clinical phenotypes, and genotyping is diagnostically helpful and distinctive. Using next generation sequencing in SAIDs, digenic variants or combinations of more genetic variants in different genes can be detected, and they may be related to the MEFV and NOD2 genes. These variants may contribute to heterogeneous phenotypes in an individual, complicating the diagnosis and therapy. An awareness of the clinical significance of the digenic or combined gene variants is important in the era of genomic medicine.

中文翻译：

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在基因组医学时代，自身炎症性疾病以NOD2相关疾病为重点。

全身性自身炎症性疾病（SAID）代表了一系列遗传异质性炎症性疾病。一些与SAID相关的基因位于16号染色体上，包括家族性地中海热基因（MEFV）和核苷酸结合寡聚域2 [NOD2]基因，这些基因与克罗恩病，布劳综合征和瑶族综合征有关。这些疾病具有重叠的临床表型，而基因分型在诊断上是有帮助且独特的。使用SAIDs中的下一代测序，可以检测不同基因中的双基因变异或更多遗传变异的组合，并且它们可能与MEFV和NOD2基因有关。这些变异可能会导致个体的异型表型，使诊断和治疗复杂化。