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Article

Recombination activity of human recombination-activating gene 2 (RAG2) mutations and correlation with clinical phenotype.

The Journal of allergy and clinical immunology - 1 Feb 2019

Tirosh Irit, Yamazaki Yasuhiro, Frugoni Francesco, Ververs Francesca A, Allenspach Eric J, Zhang Yu, Burns Siobhan, Al-Herz Waleed, Noroski Lenora, Walter Jolan E, Gennery Andrew R, van der Burg Mirjam, Notarangelo Luigi D, Lee Yu Nee

Abstract excerpt

BACKGROUND: Mutations in recombination-activating gene (RAG) 1 and RAG2 are associated with a broad range of clinical and immunologic phenotypes in human subjects. OBJECTIVE: Using a flow cytometry-based assay, we aimed to measure the recombinase activity of naturally occurring RAG2 mutant proteins and to correlate our results with the severity of the clinical and immunologic phenotype. METHODS: Abelson...

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Source

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Identifiers

PMID: 29772310
DOI: 10.1016/j.jaci.2018.04.027
PMCID: PMC6295349

Genes

RAG2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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