DCLRE1C基因突变致Omenn综合征1例  

Omenn syndrome caused by DCLRE1C gene mutation:a case report

作　　者：肖荣州 封其华[1] XIAO Rongzhou;FENG Qihua(Author Affiliation:Department of Rheumatology,Children's Hospital of Soochow University,Suzhou,Jiangsu 215000,China)

机构地区：[1]苏州大学附属儿童医院风湿免疫科,江苏苏州215000

出　　处：《安徽医药》2024年第11期2275-2278,共4页Anhui Medical and Pharmaceutical Journal

摘　　要：目的探索Omenn综合征的诊断及治疗经验。方法总结苏州大学附属儿童医院2021年收治的1例Omenn综合征的诊断及治疗过程。结果男,2岁4个月,发现皮疹10个月余入院,既往有多次感染病史,累及多个系统,均予头孢类抗生素治疗后好转出院,此次第5次入院后予药物对症治疗皮疹基本消退,并完善基因检查提示Omenn综合征、重症联合免疫缺陷Athabascan型相关基因DCLRE1C存在两处杂合突变,家系验证为复合杂合突变,最终予造血干细胞移植治疗成功,目前无病生存。结论临床上当病儿既往存在反复感染、红皮病等表现时应警惕Omenn综合征,尽早完善基因检测及骨髓移植是根治该疾病的重要手段。Objective To explore the diagnosis and treatment experience of Omenn Syndrome.Methods The diagnosis and treatment process of a case of Omenn syndrome from Children's Hospital of Soochow University in 2021 were summarized.Results The patient,male,aged 2 years and 4 months,was admitted to the hospital with a rash found for more than 10 months.He had a history of multiple infections,involving multiple systems,and was treated with cephalosporins,finally he was discharged from the hospital.After the fifth admission,the rash basically subsided after targeted drug treatment,and complete genetic testing revealed two heterozygous mutations in the DCLRE1C gene related to Omen syndrome and severe combined immunodeficiency Athabascan type.The family confirmed it as a compound heterozygous mutation.The final treatment with hematopoietic stem cell transplantation was successful,and currently he is disease-free survival.Conclusions In clinical practice,when children have previous symptoms such as recurrent infections and erythroderma,they should be vigilant against Omenn syndrome.Improving gene testing and bone marrow transplantation as soon as possible are important means to cure this disease.

关 键 词：重症联合免疫缺陷 皮炎 Omenn综合征 造血干细胞移植 

分 类 号：R725.9[医药卫生—儿科]