Early Diagnosis of Ataxia Telangiectasia Through Newborn Screening for SCID: a Case Report Highlighting the Dilemma of Pre-emptive HSCT
Author:
Funder
Leids Universitair Medisch Centrum
Publisher
Springer Science and Business Media LLC
Subject
Immunology,Immunology and Allergy
Link
https://link.springer.com/content/pdf/10.1007/s10875-023-01571-y.pdf
Reference19 articles.
1. van Os NJH, Jansen AFM, van Deuren M, et al. Ataxia-telangiectasia: immunodeficiency and survival. Clin Immunol. 2017;178:45–55.
2. Mallott J, Kwan A, Church J, et al. Newborn screening for SCID identifies patients with ataxia telangiectasia. J Clin Immunol. 2013;33(3):540–9.
3. Mandola AB, Reid B, Sirror R, et al. Ataxia telangiectasia diagnosed on newborn screening-case cohort of 5 years’ experience. Front Immunol. 2019;10:2940.
4. Barbaro M, Ohlsson A, Borte S, et al. Newborn screening for severe primary immunodeficiency diseases in Sweden-a 2-year pilot TREC and KREC screening study. J Clin Immunol. 2017;37(1):51–60.
5. Bakhtiar S, Woelke S, Huenecke S, et al. Pre-emptive allogeneic hematopoietic stem cell transplantation in ataxia telangiectasia. Front Immunol. 2018;9:2495.
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