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 language | English (US) |
|---|---|
| Pages (from-to) | 497-501 |
| Number of pages | 5 |
| Journal | Immunology |
| Volume | 120 |
| Issue number | 4 |
| DOIs | |
| State | Published - Apr 1 2007 |
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Keywords
- CD40L
- Hyper-IgM
- Immunodeficiency
ASJC Scopus subject areas
- Immunology and Allergy
- Immunology
Cite this
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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 journal › Article
TY - JOUR
T1 - Hyper-immunoglobulin M syndrome caused by a mutation in the promotor for CD40L
AU - Van Hoeyveld, Erna
AU - Zhang, Ping Xia
AU - De Boeck, Kris
AU - Fuleihan, Ramsay
AU - Bossuyt, Xavier
PY - 2007/4/1
Y1 - 2007/4/1
N2 - 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.
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.
KW - CD40L
KW - Hyper-IgM
KW - Immunodeficiency
UR - http://www.scopus.com/inward/record.url?scp=33847648360&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=33847648360&partnerID=8YFLogxK
U2 - 10.1111/j.1365-2567.2006.02520.x
DO - 10.1111/j.1365-2567.2006.02520.x
M3 - Article
C2 - 17244160
AN - SCOPUS:33847648360
VL - 120
SP - 497
EP - 501
JO - Immunology
JF - Immunology
SN - 0019-2805
IS - 4
ER -