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Article

Omenn syndrome in an infant with IL7RA gene mutation.

The Journal of pediatrics - 1 Feb 2006

Giliani Silvia, Bonfim Carmen, de Saint Basile Genevieve, Lanzi Gaetana, Brousse Nicole, Koliski Adriana, Malvezzi Mariester, Fischer Alain, Notarangelo Luigi D, Le Deist Francoise

Abstract excerpt

Omenn syndrome (OS) is a rare combined immunodeficiency characterized by erythroderma, lymphadenopathy, and autoimmune manifestations. Most cases are due to mutations in the RAG genes. We report a case of OS due to mutations of IL7RA, thus defining Omenn syndrome as a genetically heterogeneous condition.

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Source

Identifiers

PMID: 16492442
DOI: 10.1016/j.jpeds.2005.10.004

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.

Related research

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Omenn syndrome in an infant with IL7RA gene mutation.PMID 16492442Read ↗

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[Analysis of genetic mutations and pathogenesis for two children with Omenn syndrome].Semantic proximity Read ↗

[Clinical phenotype and gene diagnostic analysis of Omenn syndrome].Semantic proximity Read ↗

Prenatal diagnosis of RAG-deficient Omenn syndrome.Semantic proximity Read ↗

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

Omenn syndrome does not live by V(D)J recombination alone.Semantic proximity Read ↗

Mutations in the RNA component of RNase mitochondrial RNA processing might cause Omenn syndrome.Semantic proximity Read ↗

Compound heterozygous mutation of Rag1 leading to Omenn syndrome.Semantic proximity Read ↗

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