Erschienen in:
01.03.2016 | Scientific Letter
Ataxia Telangiectasia Masquerading as Hyper IgM Syndrome
verfasst von:
Amit Rawat, Kohsuke Imai, Deepti Suri, Anju Gupta, Swapnil Bhisikar, Biman Saikia, Ranjana W. Minz, Shobha Sehgal, Surjit Singh
Erschienen in:
Indian Journal of Pediatrics
|
Ausgabe 3/2016
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Excerpt
To the Editor: Ataxia Telangiectasia (AT) is an autosomal recessive disorder characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia, immunodeficiency and an increased susceptibility to hematological malignancies. AT results from mutations in the ATM (Ataxia Telangiectasia Mutated) gene. About 10 % of children with AT present with a decreased level of immunoglobulins G and A and a normal or increased IgM due to defect in immunoglobulin isotype switching. …