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Whole-exome sequencing identified a homozygous novel RAG1 mutation in a child with omenn syndrome
Allergologia et Immunopathologia
Introduction and objectives: Omenn syndrome (OS) is a very rare type of severe combined immunodeficiencies manifested with erythroderma, eosinophilia, hepatosplenomegaly, lymphadenopathy, and elevated level of serum IgE. OS is inherited with an autosomal recessive mode of inheritance. Germline mutations in the human RAG1 gene cause OS. Materials and methods: In this study, we investigated a 2-month-old boy with cough, mild anaemia, pneumonia, immunodeficiency, repeated infection, feedingdoi:10.15586/aei.v50i6.529 pmid:36335443 fatcat:kn4k5uzbzvbnvovi2kr5fgis5e