Evaluation of immune-regulatory functions in auto-inflammatory illnesses

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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.