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Article

A novel homozygous mutation in recombination activating gene 2 in 2 relatives with different clinical phenotypes: Omenn syndrome and hyper-IgM syndrome.

The Journal of allergy and clinical immunology - 1 Dec 2012

Chou Janet, Hanna-Wakim Rima, Tirosh Irit, Kane Jennifer, Fraulino David, Lee Yu Nee, Ghanem Soha, Mahfouz Iman, Mégarbané André, Lefranc Gérard, Inati Adlette, Dbaibo Ghassan, Giliani Silvia, Notarangelo Luigi D, Geha Raif S, Massaad Michel J

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 22841008
DOI: 10.1016/j.jaci.2012.06.012
PMCID: PMC3511613

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A novel homozygous mutation in recombination activating gene 2 in 2 relatives with different clinical phenotypes: Omenn syndrome and hyper-IgM syndrome.PMID 22841008Read ↗

A heterozygous mutation in the RAG2 gene with cutaneous and systemic manifestations partially resembling Omenn syndrome.Semantic proximity Read ↗

Omenn syndrome due to mutation of the RAG2 gene.Semantic proximity Read ↗

Omenn Syndrome and DNA recombination defects.Semantic proximity Read ↗

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

Lesson from hypomorphic recombination-activating gene (RAG) mutations: Why asymptomatic siblings should also be tested.Semantic proximity Read ↗

Prenatal diagnosis of RAG-deficient Omenn syndrome.Semantic proximity Read ↗

[Analysis of genetic mutations and pathogenesis for two children with Omenn syndrome].Semantic proximity Read ↗

Omenn's syndrome occurring in patients without mutations in recombination activating genes.Semantic proximity Read ↗

Omenn syndrome does not live by V(D)J recombination alone.Semantic proximity Read ↗

Whole-exome sequencing identified a homozygous novel RAG1 mutation in a child with omenn syndrome.Semantic proximity Read ↗

Omenn syndrome--review of several phenotypes of Omenn syndrome and RAG1/RAG2 mutations in Japan.Semantic proximity Read ↗

Compound heterozygous mutation of Rag1 leading to Omenn syndrome.Semantic proximity Read ↗

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