期刊
NEUROPEDIATRICS
卷 39, 期 1, 页码 43-45出版社
GEORG THIEME VERLAG KG
DOI: 10.1055/s-2008-1076736
关键词
ataxia-telangiectasia; immunodeficiency; hyper IgM syndrome
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.
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