Background A whole exome sequencing study was performed on an extended family including a patient with Crohn's disease (CD) and a patient with complex regional pain syndrome (CRPS). The patient with CD and the patient with CRPS have experienced resolution of their disease following treatment for paratuberculosis. The study was performed in order to determine if there is an unusual mutation in this extended family that would explain the susceptibility to mycobacterial infection among many of the members. Results We identified sets of rare single nucleotide polymorphisms (SNPs) that were shared among affected family members, including variants in two genes, IL15RA and CASP10, which have established roles in the immune response. In addition, the CD and CRPS patients were found to have heterozygous mutations in MBL2 and DDX58, mutations that have been associated with susceptibility to tuberculosis. Conclusions The IL15RA and CASP10 variants may contribute to the disease symptoms exhibited in this family. The finding of SNPs associated with immune function supports a complementary role of infection and genetics in these diseases.

中文翻译：

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在副结核病治疗后解决克罗恩病和复杂区域疼痛综合征的患者的全外显子组测序。

背景 对一个大家庭进行了全外显子组测序研究，包括一名患有克罗恩病 (CD) 的患者和一名患有复杂区域疼痛综合征 (CRPS) 的患者。CD 患者和 CRPS 患者在治疗副结核病后经历了疾病的消退。进行这项研究是为了确定这个大家族中是否存在异常突变，这可以解释许多成员对分枝杆菌感染的易感性。结果 我们确定了在受影响的家庭成员之间共享的罕见单核苷酸多态性 (SNP) 集，包括两个基因的变体，IL15RA 和 CASP10，它们已在免疫反应中确立了作用。此外，发现CD和CRPS患者存在MBL2和DDX58杂合突变，与结核病易感性相关的突变。结论 IL15RA 和 CASP10 变体可能导致该家族表现出的疾病症状。与免疫功能相关的 SNP 的发现支持了感染和遗传学在这些疾病中的互补作用。