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.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Ataxia Telangiectasia / diagnosis*
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Ataxia Telangiectasia / genetics
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Ataxia Telangiectasia / immunology
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Ataxia Telangiectasia Mutated Proteins
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Blotting, Western
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Cell Cycle Proteins / genetics
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Cell Cycle Proteins / metabolism*
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Child
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DNA-Binding Proteins / genetics
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DNA-Binding Proteins / metabolism*
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Diagnosis, Differential
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Family Health
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Female
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Humans
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Hyper-IgM Immunodeficiency Syndrome / diagnosis
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Hyper-IgM Immunodeficiency Syndrome / genetics
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Immunoglobulin M / blood
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Immunophenotyping
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Mutation
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Neurodegenerative Diseases / diagnosis
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Neurodegenerative Diseases / genetics
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Protein Serine-Threonine Kinases / genetics
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Protein Serine-Threonine Kinases / metabolism*
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Tumor Suppressor Proteins / genetics
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Tumor Suppressor Proteins / metabolism*
Substances
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Cell Cycle Proteins
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DNA-Binding Proteins
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Immunoglobulin M
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Tumor Suppressor Proteins
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ATM protein, human
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Ataxia Telangiectasia Mutated Proteins
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Protein Serine-Threonine Kinases