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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 lead to partial recombinase activity are responsible for many of the patients with these clinical features. We report on...

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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 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

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

More than just SCID--the phenotypic range of combined immunodeficiencies associated with mutations in the recombinase activating genes (RAG) 1 and 2.Semantic proximity Read ↗

Heterogeneity in RAG1 and RAG2 deficiency: 35 cases from a single-centre.Semantic proximity Read ↗

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

V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.Semantic proximity Read ↗

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 ↗

Omenn syndrome: a disorder of Rag1 and Rag2 genes.Semantic proximity Read ↗

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 ↗

Three faces of recombination activating gene 1 (RAG1) mutations.Semantic proximity Read ↗

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