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Article

Clinical and genetic heterogeneity in Omenn syndrome and severe combined immune deficiency.

Pediatric transplantation - 1 Mar 2009

Gruber Tanja A, Shah Ami J, Hernandez Michelle, Crooks Gay M, Abdel-Azim Hisham, Gupta Sudhir, McKnight Sean, White Drew, Kapoor Neena, Kohn Donald B

Abstract excerpt

OS has been described as a clinical phenotype in infants characterized by SCID, diffuse erythroderma, and other distinct features. The pathogenesis is secondary to autologous, auto-reactive T cells produced as rare escapees from the SCID blockade. Mutations in either the RAG1 or RAG2 gene that le...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18822103
DOI: 10.1111/j.1399-3046.2008.00970.x

Genes

RAG1
RAG2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-18822103-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

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Clinical and genetic heterogeneity in Omenn syndrome and severe combined immune deficiency.PMID 18822103Read ↗

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The genetic and biochemical basis of Omenn syndrome.Semantic proximity Read ↗

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Omenn Syndrome and DNA recombination defects.Semantic proximity Read ↗

Omenn syndrome caused by a novel homozygous mutation in recombination activating gene 1.Semantic proximity Read ↗

Molecular analysis of T-B-NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia.Semantic proximity Read ↗

Oligoclonal expansion of T lymphocytes with multiple second-site mutations leads to Omenn syndrome in a patient with RAG1-deficient severe combined immunodeficiency.Semantic proximity Read ↗

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Omenn syndrome--review of several phenotypes of Omenn syndrome and RAG1/RAG2 mutations in Japan.Semantic proximity Read ↗

Relative CD4 lymphopenia and a skewed memory phenotype are the main immunologic abnormalities in a child with Omenn syndrome due to homozygous RAG1-C2633T hypomorphic mutation.Semantic proximity Read ↗

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