Hyper-immunoglobulin M syndrome caused by a mutation in the promotor for CD40L

Erna Van Hoeyveld, Ping Xia Zhang, Kris De Boeck, Ramsay Fuleihan, Xavier Bossuyt*

*Corresponding author for this work

Research output: Contribution to journalArticle

14 Citations (Scopus)

Abstract

Hyper-immunoglobulin M (IgM) syndrome (HIGM) is a rare primary immunodeficiency characterized by elevated or normal IgM and absent or markedly decreased amounts of IgG, IgA and IgE. The X-linked form (HIGM1) is the most common type and is caused by mutations in the gene for CD40L, a T-cell surface molecule required for T-cell driven immunoglobulin class switching by B cells. In the present study we have identified a patient with X-linked hyper-IgM who failed to express CD40L on the cell surface of CD4+ T lymphocytes. Sequence analysis of CD40L genomic DNA showed no mutations. CD40L mRNA was absent and sequence analysis of the CD40L promotor revealed a mutation at position -123 from the transcription start site. The mutation in the promotor region likely contributed to the decreased transcription as demonstrated by a luciferase reporter assay.

Original languageEnglish (US)
Pages (from-to)497-501
Number of pages5
JournalImmunology
Volume120
Issue number4
DOIs
StatePublished - Apr 1 2007

Fingerprint

CD40 Ligand
Immunoglobulin M
Mutation
T-Lymphocytes
Sequence Analysis
Type 1 Hyper-IgM Immunodeficiency Syndrome
Immunoglobulin Class Switching
Transcription Initiation Site
Luciferases
Genetic Promoter Regions
Immunoglobulin A
Immunoglobulin E
B-Lymphocytes
Immunoglobulin G
Light Fixation Seizure Syndrome
Messenger RNA
DNA
Genes

Keywords

  • CD40L
  • Hyper-IgM
  • Immunodeficiency

ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology

Cite this

Van Hoeyveld, Erna ; Zhang, Ping Xia ; De Boeck, Kris ; Fuleihan, Ramsay ; Bossuyt, Xavier. / Hyper-immunoglobulin M syndrome caused by a mutation in the promotor for CD40L. In: Immunology. 2007 ; Vol. 120, No. 4. pp. 497-501.
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Hyper-immunoglobulin M syndrome caused by a mutation in the promotor for CD40L. / Van Hoeyveld, Erna; Zhang, Ping Xia; De Boeck, Kris; Fuleihan, Ramsay; Bossuyt, Xavier.

In: Immunology, Vol. 120, No. 4, 01.04.2007, p. 497-501.

Research output: Contribution to journalArticle

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T1 - Hyper-immunoglobulin M syndrome caused by a mutation in the promotor for CD40L

AU - Van Hoeyveld, Erna

AU - Zhang, Ping Xia

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AB - Hyper-immunoglobulin M (IgM) syndrome (HIGM) is a rare primary immunodeficiency characterized by elevated or normal IgM and absent or markedly decreased amounts of IgG, IgA and IgE. The X-linked form (HIGM1) is the most common type and is caused by mutations in the gene for CD40L, a T-cell surface molecule required for T-cell driven immunoglobulin class switching by B cells. In the present study we have identified a patient with X-linked hyper-IgM who failed to express CD40L on the cell surface of CD4+ T lymphocytes. Sequence analysis of CD40L genomic DNA showed no mutations. CD40L mRNA was absent and sequence analysis of the CD40L promotor revealed a mutation at position -123 from the transcription start site. The mutation in the promotor region likely contributed to the decreased transcription as demonstrated by a luciferase reporter assay.

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