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01-03-2016 | Scientific Letter

Ataxia Telangiectasia Masquerading as Hyper IgM Syndrome

Authors: Amit Rawat, Kohsuke Imai, Deepti Suri, Anju Gupta, Swapnil Bhisikar, Biman Saikia, Ranjana W. Minz, Shobha Sehgal, Surjit Singh

Published in: Indian Journal of Pediatrics | Issue 3/2016

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. …

Noordzij JG, Wulffraat NM, Haraldsson A, et al. Ataxia-telangiectasia patients presenting with hyper-IgM syndrome. Arch Dis Child. 2009;94:448–9.CrossRefPubMed

Aghamohammadi A, Imai K, Moazzami K, et al. Ataxia-telangiectasia in a patient presenting with hyper-immunoglobulin M syndrome. J Investig Allergol Clin Immunol. 2010;20:442–5.PubMed

Etzioni A, Ben-Barak A, Peron S, Durandy A. Ataxia-telangiectasia in twins presenting as autosomal recessive hyper-immunoglobulin M syndrome. Isr Med Assoc J. 2007;9:406–7.PubMed

Soresina A, Meini A, Lougaris V, et al. Different clinical and immunological presentation of ataxiatelangiectasia within the same family. Neuropediatrics. 2008;39:43–5.CrossRefPubMed

Title: Ataxia Telangiectasia Masquerading as Hyper IgM Syndrome
Authors: Amit Rawat
Kohsuke Imai
Deepti Suri
Anju Gupta
Swapnil Bhisikar
Biman Saikia
Ranjana W. Minz
Shobha Sehgal
Surjit Singh
Publication date: 01-03-2016
Publisher: Springer India
Published in: Indian Journal of Pediatrics / Issue 3/2016
Print ISSN: 0019-5456
Electronic ISSN: 0973-7693
DOI: https://doi.org/10.1007/s12098-015-1852-x

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Ataxia Telangiectasia Masquerading as Hyper IgM Syndrome

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