AUTHOR=Shen Juan , Jiang Li , Gao Yifang , Ou Rongqiong , Yu Sifei , Yang Binyan , Wu Changyou , Tan Weiping TITLE=A Novel RAG1 Mutation in a Compound Heterozygous Status in a Child With Omenn Syndrome JOURNAL=Frontiers in Genetics VOLUME=10 YEAR=2019 URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2019.00913 DOI=10.3389/fgene.2019.00913 ISSN=1664-8021 ABSTRACT=
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