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Article

RAG1 deficiency may present clinically as selective IgA deficiency.

Journal of clinical immunology - 1 Apr 2015

Kato Tamaki, Crestani Elena, Kamae Chikako, Honma Kenichi, Yokosuka Tomoko, Ikegawa Takeshi, Nishida Naonori, Kanegane Hirokazu, Wada Taizo, Yachie Akihiro, Ohara Osamu, Morio Tomohiro, Notarangelo Luigi D, Imai Kohsuke, Nonoyama Shigeaki

Abstract excerpt

BACKGROUND: Recombination-activating gene (RAG) 1 and 2 deficiency is seen in patients with severe combined immunodeficiency (SCID) and Omenn syndrome. However, the spectrum of the disease has recently expanded to include a milder phenotype. OBJECTIVE: We analyzed a 4-year-old boy who was initially given the diagnosis of selective immunoglobulin A deficiency (SIgAD) based on immunoglobulin serum levels without...

Read the complete abstract on PubMed

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Share to RAG2 gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Homeodomain Proteins

Share to IgA Deficiency

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Share to Polymorphism, Single Nucleotide

Share to Receptors, Antigen, T-Cell

Share to V(D)J Recombination

Source

Identifiers

PMID: 25739914
DOI: 10.1007/s10875-015-0146-4

Genes

RAG1
RAG2

Variants

Provenance

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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