Abstract:
:Ataxia-telangiectasia (A-T), a rare inherited disorder, usually affects the nervous and immune systems, and occasionally other organs. A-T is associated mainly with mutations in the ataxia telangiectasia mutated (ATM) gene, which encodes a protein kinase that has a major role in the cellular response to DNA damage. We report here a novel ATM mutation (c.3244_3245insG; p.His1082fs) in an 11-year old female. This subject presented with typical features, with the addition of chest manifestations including mediastinal lymphadenopathy and diffuse bilateral micronodular infiltration of the lungs, along with a high EBV titer. The subject died as a result of rapid B-cell lymphoma progression before chemotherapy could be initiated. This case highlights the need for the rapid diagnosis of A-T mutations and the detection of associated life-threatening outcomes such as cancers.
journal_name
Immunogeneticsjournal_title
Immunogeneticsauthors
Mortaz E,Marashian SM,Ghaffaripour H,Varahram M,Mehrian P,Dorudinia A,Garssen J,Adcock IM,Taylor M,Mahdaviani SAdoi
10.1007/s00251-017-0983-9subject
Has Abstractpub_date
2017-07-01 00:00:00pages
415-419issue
7eissn
0093-7711issn
1432-1211pii
10.1007/s00251-017-0983-9journal_volume
69pub_type
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