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Article

The genetic and biochemical basis of Omenn syndrome.

Immunological reviews - 1 Dec 2000

Santagata S, Villa A, Sobacchi C, Cortes P, Vezzoni P

Abstract excerpt

Omenn syndrome (OS) is a peculiar, autosomal recessive severe combined immunodeficiency (SCID) associated with early-onset, generalized, exudative erythrodermia; lymphoadenopathy; hepato- and splenomegaly; hypereosinophilia; elevated serum IgE; and normal to high activated, yet non-functional, oligoclonal T cells. Recent investigations have shown that the primum movens of all these puzzling features lies in a...

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Source

Identifiers

PMID: 11213808
DOI: 10.1034/j.1600-065x.2000.17818.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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