Abstract
对1例TNFRSF13B基因突变致周期性发热患儿的临床资料进行回顾性总结，患儿，男，以反复发热为主要表现，偶伴呼吸道症状及消化道症状，临床应用激素及秋水仙碱均有一定疗效，基因检测发现与免疫缺陷相关的肿瘤坏死因子受体超家族成员13B(TNFRSF13B)基因新型变异。通过对该基因位点保守序列、蛋白结构预测、蛋白相互作用关系以及家系共分离试验，提示该基因位点可能是该患儿的致病基因。但尚需进行细胞功能学验证以明确TNFRSF13B基因突变是否导致了周期性发热。
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