Hyper-immunoglobulin M syndrome caused by a mutation in the promotor for CD40L.
Immunology
; 120(4): 497-501, 2007 Apr.
Article
en En
| MEDLINE
| ID: mdl-17244160
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.
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Inmunoglobulina M
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Ligando de CD40
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Enfermedades Genéticas Ligadas al Cromosoma X
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Hipergammaglobulinemia
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Síndromes de Inmunodeficiencia
Límite:
Humans
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Infant
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Male
Idioma:
En
Revista:
Immunology
Año:
2007
Tipo del documento:
Article
País de afiliación:
Bélgica