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Article

Highly variable clinical phenotypes of hypomorphic RAG1 mutations.

Pediatrics - 1 Nov 2010

Avila Elizabeth Mannino, Uzel Gulbu, Hsu Amy, Milner Joshua D, Turner Maria L, Pittaluga Stefania, Freeman Alexandra F, Holland Steven M

Abstract excerpt

Hypomorphic mutations that lead to "leaky" severe combined immunodeficiency presentation with partial protein function are increasingly being identified. Mutations in recombination-activating genes (RAGs) 1 and 2 cause immunodeficiency and dysregulation ranging from severe combined immunodeficiency to Omenn syndrome to more mild immunodeficiencies. We report here the cases of 3 patients with hypomorphic RAG1...

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Source

Identifiers

PMID: 20956421
DOI: 10.1542/peds.2009-3171

Genes

RAG1

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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