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Article

Type two hyper-IgM syndrome caused by mutation in activation-induced cytidine deaminase.

Journal of medical and dental sciences - 1 Mar 2003

Zhu Yi, Nonoyama Shigeaki, Morio Tomohiro, Muramatsu Masamichi, Honjo Tasuku, Mizutani Shuki

Abstract excerpt

Thirteen Japanese patients with hyper-IgM syndrome but normal CD40 ligand were characterized. All patients had mutations in AID (activation-induced cytidine deaminase) gene. Five of them had a missense mutation of Arg112His. In all patients, serum IgG, IgA and IgE levels were undetectable, B cells failed to produce detectable amounts of IgE even if cultured them with anti-CD40 and IL-4. Somatic hypermutation...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12715918

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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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