Abstract：【Objective】 To investigate the etiology, pathogenesis, diagnostic criteria, differential diagnosis and treatment of Omenn syndrome. 【Methods】 A case of Omenn syndrome was reported and the related literature was reviewed. 【Results】 A girl aged 1 year and 2 months had recurrent cough and fever, repeated erythema and scaling all over her body. There was no special history and personal history. Her sister had a history of "autoimmune hemolysis" and died. The results of gene examination showed that RAG1 was homozygous and the therapeutic effect was poor. 【Conclusion】The prognosis of Omenn syndrome is poor, and it often dies of organ failure and severe infection.
岳淑珍, 罗鸯鸯, 李珂瑶, 张圆圆, 汤建萍, 周斌. Omenn综合征1例及相关文献复习[J]. 医学临床研究, 2022, 39(11): 1612-1614.
YUE Shu-zhen, LUO Yang-yang, LI Ke-yao, et al. Omen Syndrome:A Case Report and Review of Related Literature. JOURNAL OF CLINICAL RESEARCH, 2022, 39(11): 1612-1614.
[1] POURVALI A,ARSHI S,NABAVI M,et al.Atypical omenn syndrome due to RAG2 gene mutation,a case report[J].Iran J Immunol,2019,16(4):334-338. [2] SHEN J,JIANG L,GAO Y,et al.A novel RAG1 mutation in a compound heterozygous status in a child with Omenn Syndrome[J].Front Genet,2019,10:913. [3] VILLA A,NOTARANGELO L D.RAG gene defects at the verge of immunodeficiency and immune dysregulation[J].Immunol Rev,2019,287(1):73-90. [4] 余刚,王文婕,刘丹如,等.人重组激活基因1突变所致不同表型免疫缺陷病临床特征[J].中华儿科杂志,2018 ,56(3):186-191. [5] LUO X,LIU Q,JIANG J,et al.Characterization of a cohort of patients with LIG4 deficiency reveals the founder effect of p.R278L,unique to the Chinese population[J].Front Immunol,2021,12:695993. [6] MANCEBO E,RECIO M J,MARTÍNEZ-BUSTO E,et al.Possible role of Artemis c.512C>G polymorphic variant in Omenn Syndrome[J].DNA Repair (Amst),2011,10(1):3-4. [7] RIGONI R,FONTANA E,DOBBS K,et al.Cutaneous barrier leakage and gut inflammation drive skin disease in Omenn Syndrome[J].J Allergy Clin Immunol,2020,146(5):1165-1179. [8] YILDIRAN A,ÇELIKSOY M H,BORTE S,et al.Hematopoietic stem cell transplantation in primary immunodeficiency patients in the black sea region of turkey[J].Turk J Haematol,2017,34(4):345-349. [9] CAPO V,CASTIELLO M C,FONTANA E,et al.Efficacy of lentivirus-mediated gene therapy in an Omenn syndrome recombination-activating gene 2 mouse model is not hindered by inflammation and immune dysregulation[J].J Allergy Clin Immunol,2018,142(3):928-941. [10] VILLA A,CAPO V,CASTIELLO M C.Innovative cell-based therapies and conditioning to cure RAG deficiency[J].Front Immunol,2020,11:607926. [11] 王艳,刘欣,谷亚楠,等.误诊为鱼鳞病的Omenn综合征两姐妹及其家系遗传分析和胎儿诊断[J].中华实用儿科临床杂志,2020,35(9):3.
2022, Vol. 39 
