Ataxia telangiectasia case report from tertiary-care hospital of North Karnataka

Kashinkunti, Mohan D.; Dhananjaya, M.

dc.contributor.author	Kashinkunti, Mohan D.
dc.contributor.author	Dhananjaya, M.
dc.date.accessioned	2016-09-29T08:46:44Z
dc.date.available	2016-09-29T08:46:44Z
dc.date.issued	2013-12
dc.identifier.citation	Medica Innovatica. 2013 Dec; 2(2): 118-120.	en_US
dc.identifier.issn	2278-7526
dc.identifier.uri	http://localhost:8080/xmlui/handle/123456789/847
dc.description.abstract	Ataxia-telangiectasia (AT) is a primary immunodeficiency disease with multisystem disorder characterized by progressive neurologic impairment, variable immunodeficiency, impaired organ maturation, oculo-cutaneous telangiectasia, and a predisposition to malignancy. It is a variable immunodeficiency involving both cellular and humoral responses and a predisposition to cancer. In 1995, a large gene was identified on chromosome 11q22-q23, known as AT Mutant(ATM) gene and the lack of its gene product, the ATM protein, is responsible for the clinical features of AT. Here we present a case of ataxia telangiectasia in a 16 year old female who presented with progressive ataxia.	en_US
dc.language.iso	en	en_US
dc.publisher	B.V.V. Sangha’s S. Nijalingappa Medical College	en_US
dc.subject	Ataxia telangiectasia	en_US
dc.subject	Humoral immunity	en_US
dc.subject	Immunodeficiency	en_US
dc.title	Ataxia telangiectasia case report from tertiary-care hospital of North Karnataka	en_US
dc.type	Article	en_US