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Article

Clinical features and genetic analysis of Taiwanese patients with the hyper IgM syndrome phenotype.

The Pediatric infectious disease journal - 1 Sept 2013

Lee Wen-I, Huang Jing-Long, Yeh Kuo-Wei, Yang Min-Jay, Lai Ming-Chi, Chen Li-Chen, Ou Liang-Shiou, Yao Tsung-Chieh, Lin Syh-Jae, Jaing Tang-Her, Chen Shih-Hsiang, Hsieh Meng-Ying, Yu Hsin-Hui, Chien Yin-Hsiu, Shyur Shyh-Dar

Abstract excerpt

OBJECTIVES: Hyper IgM syndrome (HIGM), characterized by recurrent infections, low serum IgG and IgA, normal or elevated IgM, defective class switch recombination and somatic hypermutation, are heterogeneous disorders with at least 6 distinct molecular defects, including the CD40 ligand (CD40L) and the nuclear factor κB essential modulator (NEMO, also known as IKKγ) genes (both X-linked), the CD40,...

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Source

Identifiers

PMID: 23538518
DOI: 10.1097/INF.0b013e3182936280

Genes

AICDA

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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