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Article

Mutations in the RNA component of RNase mitochondrial RNA processing might cause Omenn syndrome.

The Journal of allergy and clinical immunology - 1 Apr 2006

Roifman Chaim M, Gu Yiping, Cohen Amos

Abstract excerpt

BACKGROUND: Omenn syndrome is a variant of severe combined immunodeficiency disease, which most prominently presents with erythroderma, eosinophilia, and susceptibility to various pathogens. Mutations in the nucleases of recombination activating genes 1 and 2 (RAG1/RAG2) or Artemis were found in some, but not all, patients with Omenn syndrome. We identified 2 patients who presented with clinical features...

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Source

Identifiers

PMID: 16630949
DOI: 10.1016/j.jaci.2006.01.003

Genes

RAG1
RAG2

Provenance

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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