The polymorphism p.G219R of CD40L does not cause immunological alterations in vivo: conclusions from a X-linked hyper IgM syndrome kindred.
Mol Immunol
; 52(3-4): 237-41, 2012 Oct.
Article
em En
| MEDLINE
| ID: mdl-22750225
ABSTRACT
Hyper-IgM syndromes (HIGM) are characterized by low levels of IgG, IgA and IgE and normal to high levels of IgM. Patients with these syndromes present recurrent infections due to an impaired immunoglobulin maturation. The most prevalent form of HIGM, X-linked hyper IgM syndrome (XHIM), is caused by mutations in the gene encoding the CD40 ligand (CD40LG). We present two siblings with XHIM caused by a large CD40LG deletion affecting more than half of the gene, and extended from the end of intron 3 to far upstream of the promoter regions. Genetic analysis in the maternal family discovered the CD40L(G219R) polymorphism in several members. Segregation of this polymorphism in the kindred indicated that the deletion of CD40LG was a de novo mutation in the mother. Although half of her CD4+ T cells did not express CD40L and the other half expressed the CD40L(G219R) variant, the mother was healthy. This suggests that this polymorphism is not pathogenic by itself although it has been recently related to X-linked lymphoproliferative syndrome.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Imunoglobulina M
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Linfócitos T CD4-Positivos
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Polimorfismo de Nucleotídeo Único
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Ligante de CD40
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Síndrome de Imunodeficiência com Hiper-IgM Tipo 1
Limite:
Child, preschool
/
Humans
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Infant
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Male
Idioma:
En
Revista:
Mol Immunol
Ano de publicação:
2012
Tipo de documento:
Article