Ataxia Telangiectasia Diagnosed on Newborn Screening–Case Cohort of 5 Years' Experience

Ataxia Telangiectasia Diagnosed on Newborn Screening–Case Cohort of 5 Years' Experience

Ataxia telangiectasia (AT) is a genetic condition caused by mutations involving ATM (Ataxia Telangiectasia Mutated). This gene is responsible for the expression of a DNA double stranded break repair kinase, the ATM protein kinase. The syndrome encompasses combined immunodeficiency and various degree...

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Bibliographic Details
Main Authors: Amarilla B. Mandola, Brenda Reid, Raga Sirror, Rae Brager, Peter Dent, Pranesh Chakroborty, Dennis E. Bulman, Chaim M. Roifman
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-12-01
Series:Frontiers in Immunology
Subjects:
ataxia telangiectasia
newborn screen
primary immunodeficiency
TRECs
lymphopenia
Online Access:https://www.frontiersin.org/article/10.3389/fimmu.2019.02940/full

Internet

https://www.frontiersin.org/article/10.3389/fimmu.2019.02940/full

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