Whole-exome sequencing identified a homozygous novel RAG1 mutation in a child with omenn syndrome.
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DOI: 10.15586/aei.v50i6.529
Abstract: INTRODUCTION AND OBJECTIVES Omenn syndrome (OS) is a very rare type of severe combined immunodeficiencies manifested with erythroderma, eosinophilia, hepatosplenomegaly, lymph-adenopathy, and elevated level of serum IgE. OS is inherited with an autosomal recessive mode… read more here.
Keywords: omenn syndrome; whole exome; rag1; sequencing identified ... See more keywords