Tumour necrosis factor receptor-associated periodic syndrome with a novel mutation in the TNFRSF1A gene in a Japanese family.

摘要: Tumour necrosis factor receptor-associated periodic syndrome (TRAPS) is a dominantly inherited disorder characterised by recurrent episodes of sustained fever. Here we report case TRAPS with novel TNFRSF1A mutation, C70S, in Japanese family. The mutation disrupts one the three disulphide bonds cysteine-rich domain 2 TNF receptor 1, similar to reported mutations same cysteine residue (C70R, C70Y). This first confirmed an eastern Asian population. patient’s asymptomatic sister as well their mother mild symptoms had mutation. Conclusion: Although tumour has been mainly families northern European ancestry, our suggests need include it differential diagnosis patients fever even ethnic groups which no documented.