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Last Posted: Dec 18, 2023

• Newborn Screening for Severe Combined Immunodeficiency: Lessons Learned from Screening and Follow-Up of the Preterm Newborn Population
  A Gaviglio et al, IJNS, December 2023
• Screening newborns for deadly immune disorder saves lives
  NIH, July 2023
• Implementation of Newborn Screening for Conditions in the United States First Recommended during 2010-2018.
  Sikha Singh et al. Int J Neonatal Screen 9(2)
• Implementation of Newborn Screening for Conditions in the United States First Recommended during 2010–2018
  S Singh et al, IJNS, April 2023
• Newborn screening for spinal muscular atrophy in Osaka -challenges in a Japanese pilot study.
  Tomokazu Kimizu et al. Brain & development 2023
• A high-throughput newborn screening approach for SCID, SMA, and SCD combining multiplex qPCR and tandem mass spectrometry.
  Rafael Tesorero et al. PloS one 2023 18(3) e0283024
• Gene Therapy for Artemis-Deficient SCID
  SY Pai, NEJM, December 22, 2022
• Newborn screening for severe combined immunodeficiency: The results of the first pilot TREC and KREC study in Ukraine with involving of 10,350 neonates.
  Boyarchuk Oksana et al. Frontiers in immunology 2022 13999664
• Modelling the Cost-Effectiveness and Budget Impact of a Newborn Screening Program for Spinal Muscular Atrophy and Severe Combined Immunodeficiency.
  Shih Sophy T F et al. International journal of neonatal screening 2022 8(3)
• Genetic screening techniques and diseases for neonatal genetic diseases.
  Han Lianshu et al. Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences 2021 50(4) 429-435
• Gene therapy helps children with immunodeficiency
  O'Leary, Nature Medicine, June 10, 2021
• Newborn screening for severe combined immunodeficiency: clinical and cost-effectiveness approaches.
  Boyarchuk Oksana et al. Polski merkuriusz lekarski : organ Polskiego Towarzystwa Lekarskiego 2021 49(289) 80-83
• Gene Therapy for Monogenic Inherited Disorders.
  Kirschner Janbernd et al. Deutsches Arzteblatt international 2021 117(51-52) 878-885
• David Vetter was ‘the boy in the bubble.’ His short life provided insights into how the rare disorder SCID works.
  E Blakemore, Washington Post, January 2020
• Where are you in your SCID journey?
  Immune Deficiency Foundation, SCID Compass, 2019
• Dilemma of Reporting Incidental Findings in Newborn Screening Programs for SCID: Parents' Perspective on Ataxia Telangiectasia.
  Blom Maartje et al. Frontiers in immunology 2019 102438
• Early diagnosis of ataxia telangiectasia in the neonatal phase: a parents' perspective.
  Schoenaker M H D et al. European journal of pediatrics 2019 Nov
• Advances and highlights in primary immunodeficiencies in 2017.
  Chinen Javier et al. The Journal of allergy and clinical immunology 2018 142(4) 1041-1051
• Gene therapy for primary immunodeficiency.
  Booth Claire et al. Human molecular genetics 2019 Jul
• Cost-effectiveness of newborn screening for severe combined immunodeficiency.
  Van der Ploeg Catharina P B et al. European journal of pediatrics 2019 May 178(5) 721-729

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