Different clinical and immunological presentation of ataxia-telangiectasia within the same family.
Neuropediatrics
; 39(1): 43-5, 2008 Feb.
Article
en En
| MEDLINE
| ID: mdl-18504682
ABSTRACT
Ataxia-telangiectasia is a rare multisystem neurodegenerative genetic disorder due to mutation of ATM gene. The clinical expression and the immunological abnormalities are variable and apparently not associated with the type of ATM mutations. We report on two siblings affected by A-T with different clinical and immunological presentations; in particular in one the immunological phenotype was reminiscent of hyper IgM syndrome.
Texto completo:
1
Base de datos:
MEDLINE
Asunto principal:
Ataxia Telangiectasia
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Proteínas Serina-Treonina Quinasas
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Proteínas de Ciclo Celular
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Proteínas Supresoras de Tumor
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Proteínas de Unión al ADN
Tipo de estudio:
Diagnostic_studies
Idioma:
En
Revista:
Neuropediatrics
Año:
2008
Tipo del documento:
Article