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Article

Molecular analysis of a large cohort of patients with the hyper immunoglobulin M (IgM) syndrome.

Blood - 1 Mar 2005

Lee Wen-I, Torgerson Troy R, Schumacher Michael J, Yel Leman, Zhu Qili, Ochs Hans D

Abstract excerpt

The hyper immunoglobulin M (IgM) syndrome (HIGM), characterized by recurrent infections, low serum IgG and IgA, normal or elevated IgM, and defective class switch recombination and somatic hypermutation, is a heterogenous disorder with at least 5 distinct molecular defects, including mutations of the genes coding for the CD40 ligand (CD40L) and IKK-gamma (NEMO) genes, both X-linked; and mutations of CD40,...

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Topics

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Share to Agammaglobulinaemia Tyrosine Kinase
Share to AICDA (Activation-Induced Cytidine Deaminase)

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15358621
DOI: 10.1182/blood-2003-12-4420

Genes

ICOS
AICDA
UNG

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.

Related research

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Molecular analysis of a large cohort of patients with the hyper immunoglobulin M (IgM) syndrome.PMID 15358621Read ↗

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Hyper immunoglobulin M syndrome due to CD40 deficiency: clinical, molecular, and immunological features.Semantic proximity Read ↗

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Update on the hyper immunoglobulin M syndromesSemantic proximity Read ↗

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