婴儿IL-36受体拮抗剂缺陷病临床免疫学特征及基因突变研究  

Clinical immunological features and gene mutation of a patient with interleukin-36 receptor antagonist deficiency

作　　者：蒋金秋[1] 倪兵 田志强 白晓明[1] 罗晓燕[1] 王华[1] 任发亮 JIANG Jinqiu;NI Bing;TIAN Zhiqiang;BAI Xiaoming;LUO Xiaoyan;WANG Hua;REN Faliang(Department of Dermatology,Children’s Hospital of Chongqing Medical University,National Clinical Research Center for Child Health and Disorders,Chongqing 400014,China;Department of Pathophysiology and Plateau Pathology,Army Military Medical University,Chongqing 400038,China;Institute of Immunology,PLA,Army Military Medical University,Chongqing 400038,China)

机构地区：[1]重庆医科大学附属儿童皮肤科,国家儿童健康与疾病临床医学研究中心,400014 [2]陆军军医大学病理生理与高原病理学教研室,重庆400038 [3]陆军军医大学全军免疫研究所

出　　处：《免疫学杂志》2020年第7期612-616,共5页Immunological Journal

基　　金：国家自然科学基金-青年科学基金(81803140,81703124)。

摘　　要：目的探讨1例新生儿期发病的女性婴儿IL-36受体拮抗剂缺陷病临床特征、免疫学特征及基因突变。方法收集该患者的临床资料。获取外周血标本行相关基因测序,利用流式细胞术和酶联免疫吸附试验分别进行外周血淋巴细胞精细免疫分型及细胞因子测定。结果患儿IL36RN基因第3内含子拼接位点发生c.115+6T>C纯合突变,父母为相同位点杂合突变。流式细胞术检测结果示患儿外周血淋巴细胞亚群比例及数量正常。酶联免疫吸附试验发现血清IL-6、IL-10水平增高。予以益赛普治疗后患儿全身脓疱消退,5月后随访无复发,随访中未发现感染等并发症。结论IL-36受体拮抗剂缺陷病由IL36RN基因突变致天然免疫失控引起,益赛普是治疗药物的选择之一。To investigate the clinical immunological features and gene mutation in a female infant with interleukin-36 receptor antagonist deficiency,her clinical data and histopathology result were collected and analyzed.The peripheral blood sample of the patient was examined by gene sequencing and gene comparison.Levels of inflammatory cytokines,and accurate lymphocyte classification were determined by enzyme linked immunosorbent assay and flow cytometry,respectively.The c.115+6 T>C homozygous mutation was observed at the splicing site of the third intron of IL36 RN gene,and her parents underwent heterozygous mutations at the same site.The proportion and number of peripheral blood lymphocyte subsets were normal,while the serum IL-6 and IL-10 were elevated.The patient was treated with Etanercept,and no recurrence was occured in 5 months of follow-up and no infection or other complications were found during the follow-up.Taken together,deficiency of interleukin-36 receptor antagonist is caused by IL36 RN gene mutation that induces natural immune disorder,and etanercept is one of the ideal drug options.

关 键 词：IL-36受体拮抗剂缺陷病 益赛普 

分 类 号：R394.4[医药卫生—医学遗传学]