CARD14相关丘疹鳞屑性疾病1例致病基因突变分析及乌司奴单抗长期治疗观察  

Mutation analysis and observation of long-term treatment with ustekinumab in a case of CARD14-associated papulosquamous eruption

作　　者：陈闽飞 刘彦婷[1] 冯程 耿松梅[1] Chen Minfei;Liu Yanting;Feng Cheng;Geng Songmei(Department of Dermatology,the Second Affiliated Hospital of Xi′an Jiaotong University,Xi′an 710004,China)

机构地区：[1]西安交通大学第二附属医院皮肤科,西安710004

出　　处：《中华皮肤科杂志》2025年第3期254-257,共4页Chinese Journal of Dermatology

基　　金：国家自然科学基金(81903193)。

摘　　要：目的对1例CARD14相关丘疹鳞屑性疾病(CAPE)患者及其家系进行致病基因突变检测,并观察乌司奴单抗治疗的短期和长期疗效及安全性。方法收集1例由毛发红糠疹导致的红皮病6岁患儿及其家系临床资料,采集患儿及其父母、弟弟外周血DNA,二代靶向皮肤病测序包检测基因突变,采用Sanger测序验证基因突变。以相同方法提取100例无亲缘关系的健康对照基因组DNA作为对照。结果患儿及其母亲存在CARD14基因6号内含子c.349+1G>A杂合突变,患儿父亲、弟弟及100例健康对照未检出该变异,诊断为CARD14相关丘疹鳞屑性疾病。分别于第0周、第4周及之后每12周皮下注射乌司奴单抗45 mg,治疗1周后患儿皮损及症状明显好转,继续治疗并随访18个月未见不良事件。结论CARD14基因c.349+1G>A杂合突变可能是该家系患者的致病原因,乌司奴单抗治疗有效且安全。Objective To detect pathogenic gene mutations in a patient with CARD14-associated papulosquamous eruption(CAPE)and his family,and to observe the short-term and long-term efficacy and safety of ustekinumab treatment.Methods Clinical data were collected from a 6-year-old child presenting with erythroderma secondary to pityriasis rubra pilaris and his family members.Peripheral blood samples were collected from the patient,his parents and younger brother,and DNA was extracted from these peripheral blood samples.A next-generation skin-targeted sequencing panel was used to detect gene mutations,and Sanger sequencing was performed for verification.Genomic DNA was also extracted from 100 unrelated healthy controls using the same method.Results A heterozygous mutation c.349+1G>A in intron 6 of the CARD14 gene was identified in the proband and his mother,but was not identified in his father,younger brother or 100 healthy controls,leading to a diagnosis of CAPE in the proband.The patient received subcutaneous injections of ustekinumab at a dose of 45 mg at weeks 0 and 4,and every 12 weeks thereafter.After 1-week treatment,the skin lesions and symptoms improved markedly.No adverse events were reported during the 18-month treatment and follow-up.Conclusion The heterozygous mutation c.349+1G>A in the CARD14 gene may be the cause of the disease in this family,and ustekinumab was effective and safe for the treatment of CAPE.

关 键 词：糠疹 毛发红 CARD14相关丘疹鳞屑性疾病 半胱天冬酶募集结构域14 乌司奴单抗 

分 类 号：R73[医药卫生—肿瘤]