HIGM syndrome caused by insertion of an AluYb8 element in exon 1 of the CD40LG gene.
Immunogenetics
; 59(1): 17-23, 2007 Jan.
Article
em En
| MEDLINE
| ID: mdl-17146684
ABSTRACT
A new mutation of the CD40LG gene that encodes the CD40 ligand molecule was characterized in a young patient harboring a hyper-IgM with immunodeficiency syndrome. Inactivation of CD40LG gene resulted from the insertion of an AluYb8 element in exon 1 responsible for a total deficiency of CD40 ligand expression by T lymphocytes. Maternal transmission of the X-linked mutation was confirmed by gene-specific polymerase chain reaction. This is the 17th case report concerning a human genetic disease caused by an Alu element insertion in a coding sequence.
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Base de dados:
MEDLINE
Assunto principal:
Mutagênese Insercional
/
Elementos Alu
/
Ligante de CD40
/
Doenças Genéticas Ligadas ao Cromossomo X
/
Síndrome de Imunodeficiência com Hiper-IgM Tipo 1
Idioma:
En
Ano de publicação:
2007
Tipo de documento:
Article