부산대학교 도서관

This article discusses the early diagnosis of Ataxia Telangiectasia (AT) through newborn screening for severe combined immunodeficiency (SCID). AT is a rare neurodegenerative disease with various symptoms, including cerebellar ataxia and immunodeficiency. The article highlights the potential benefits and ethical considerations of pre-emptive hematopoietic stem cell transplantation (HSCT) for patients with AT, particularly those with a more severe immunodeficiency. The case study presented in the article describes an infant with AT who was initially considered a candidate for HSCT but showed improvement in immune parameters during follow-up. The article emphasizes the need for further research and collaboration to better understand the natural course of AT and the potential outcomes of HSCT in newborn screening-diagnosed cases. [Extracted from the article]