%A Shen,Juan %A Jiang,Li %A Gao,Yifang %A Ou,Rongqiong %A Yu,Sifei %A Yang,Binyan %A Wu,Changyou %A Tan,Weiping %D 2019 %J Frontiers in Genetics %C %F %G English %K Omenn syndrome (OS),RAG1 gene,SCID - severe combined immunodeficiency,Mutation,Erythroderma %Q %R 10.3389/fgene.2019.00913 %W %L %M %P %7 %8 2019-October-02 %9 Case Report %+ Weiping Tan,Department of Pediatrics, Sun Yat-sen Memorial Hospital, Sun Yat-sen University,China,weiptan@163.com %# %! RAG1 mutation, Omenn syndrome %* %< %T A Novel RAG1 Mutation in a Compound Heterozygous Status in a Child With Omenn Syndrome %U https://www.frontiersin.org/articles/10.3389/fgene.2019.00913 %V 10 %0 JOURNAL ARTICLE %@ 1664-8021 %X Omenn syndrome is a rare autosomal recessive disorder characterized by severe, combined immunodeficiency and autoimmune features. In this case study, we found Omenn syndrome in a 3-month-old boy with recurrent infection, erythroderma, axillary lymphadenopathy, and hepatosplenomegaly. The numbers of eosinophile granulocytes and the levels of immunoglobulin E in his blood were distinctly elevated. Circulating B cells were absent, and the numbers of activated T lymphocytes were present in his peripheral blood. The production of T cell cytokines was significantly higher in the patient compared to the control samples except for interferon gamma. Whole exome sequencing revealed that the patient carried compound heterozygous mutations in the RAG1 gene, which included a previously undescribed frameshift mutation (exon 2, 2491_2497del, p. K830fsX4) and a missense mutation (exon 2, 2923 C > T, p.R975W).