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Article

Whole-exome sequencing identified a homozygous novel RAG1 mutation in a child with omenn syndrome.

Allergologia et immunopathologia - 1 Jan 2022

Wang Wendi, Wang Jian, Wang Jingjing, Liu Jingting, Pei Jianying, Li Wanyi, Wang Yanxia, Banerjee Santasree, Xu Ruifeng, Meng Zhaoyan, Yi Bin

Abstract excerpt

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 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...

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Identifiers

PMID: 36335443
DOI: 10.15586/aei.v50i6.529

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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