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Prenatal diagnosis of RAG-deficient Omenn syndrome.

Prenatal diagnosis - 1 Jan 2000

Villa A, Bozzi F, Sobacchi C, Strina D, Fasth A, Pasic S, Notarangelo L D, Vezzoni P

Abstract excerpt

Mutations in recombination activating genes (RAG) 1 and 2 have been found to cause Omenn syndrome (OS), a severe combined immunodeficiency (SCID) with a peculiar phenotype. Here we report the prenatal diagnosis performed in three OS patients. Mutations were detected in the probands as well as in their parents by genomic sequencing of the complete coding regions of both RAG 1 and RAG 2, which are contained in a...

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PMID: 10701853

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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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