Evaluation of immune-regulatory functions in auto-inflammatory illnesses

MEFV基因中的错义变体G304R与异常短mRNA的优势相关，耗尽外显子2。这种特殊的突变不仅导致氨基酸替代，而且由于选择性剪接增强而导致过量的外显子2跳变，随后发展为家族性地中海热（FMF）。研究了LPS刺激后循环单核细胞体外细胞因子的产生。在发热发作期间，细胞因子的产生与正常对照相比显著增加。相反，它在间歇非发热期被明显抑制。细胞因子产生的周期模式可能与FMF发热发作的周期性密切相关。

Missense variant G304R in the MEFV gene was associated with predominance of aberrant short mRNA, depleting exon 2. This particular mutation not only results in the amino acid replacement, but also led to excessive exon 2 skipping due to enhanced alternative splicing, with subsequent development of familial Mediterranean fever (FMF). In vitro cytokine production by circulating mononuclear cells was examined after LPS stimulation. During the febrile attacks, cytokine production was significantly increased as compared to normal controls. In contrast, it was markedly suppressed during the interval non-febrile periods. The cyclic patterns of cytokine production may be closely related to the periodicity of the febrile episodes of FMF.