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Article

Compound heterozygous mutation of Rag1 leading to Omenn syndrome.

PloS one - 1 Jan 2015

Matthews Adam G W, Briggs Christine E, Yamanaka Keiichi, Small Trudy N, Mooster Jana L, Bonilla Francisco A, Oettinger Marjorie A, Butte Manish J

Abstract excerpt

Omenn syndrome is a primary immunodeficiency disorder, featuring susceptibility to infections and autoreactive T cells and resulting from defective genomic rearrangement of genes for the T cell and B cell receptors. The most frequent etiologies are hypomorphic mutations in "non-core" regions of the Rag1 or Rag2 genes, the protein products of which are critical members of the cellular apparatus for V(D)J...

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Share to Amino Acid Substitution
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Homeodomain Proteins

Share to Infant, Newborn

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Share to Recombination, Genetic

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Source

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Identifiers

PMID: 25849362
DOI: 10.1371/journal.pone.0121489
PMCID: PMC4388548

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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