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Article

Omenn syndrome: inflammation in leaky severe combined immunodeficiency.

The Journal of allergy and clinical immunology - 1 Dec 2008

Villa Anna, Notarangelo Luigi D, Roifman Chaim M

Abstract excerpt

Omenn syndrome (OS) was reported until recently as a distinct form (phenotype and genotype) of severe combined immunodeficiency (SCID). Similar to other patients with SCID, patients with OS present early in infancy with viral or fungal pneumonitis, chronic diarrhea, and failure to thrive. Unlike typical SCID, patients with OS have enlarged lymphoid tissue, severe erythroderma, increased IgE levels, and...

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Source

Identifiers

PMID: 18992930
DOI: 10.1016/j.jaci.2008.09.037

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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Clinical and genetic heterogeneity in Omenn syndrome and severe combined immune deficiency.Semantic proximity Read ↗

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

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