Newborn Screening for Severe Combined Immunodeficiency in 11 Screening Programs in the United States

• Exploiting KREC: Time for newborn screening and beyond—proceedings from the First International KREC Consortium Meeting

  2026 Journal of Allergy and Clinical Immunology article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders

  0

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• Second-tier genetics improves newborn screening accuracy for SCID and other T cell deficiencies

  2026 Journal of Human Immunity article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access

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• Syndromic Inborn Errors of Immunity in TREC-Newborn Screening: 5-year Experience from the German Screening Program

  2026 Journal of Clinical Immunology article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access

  4

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• Managing non-SCID T cell lymphopenia after TREC-based newborn screening

  2026 Journal of Human Immunity article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access

  3

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• Clinical challenges following early detection of ataxia telangiectasia through SCID newborn screening

  2025 Journal of Human Immunity article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access

  2

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• Newborn screening for SCID and severe T lymphocytopenia in Europe

  2024 Journal of Allergy and Clinical Immunology article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access

  40

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• Restoration of T and B Cell Differentiation after RAG1 Gene Transfer in Human RAG1 Defective Hematopoietic Stem Cells

  2024 Biomedicines article Biochemistry, Genetics and Molecular Biology Virus-based gene therapy research Open access

  5

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• Inborn Errors of Immunity

  2024 Springer eBooks book-chapter Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access

  2

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• Efficient screening strategies for severe combined immunodeficiencies in newborns

  2023 Expert Review of Molecular Diagnostics article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access

  6

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• Prospective Newborn Screening for SCID in Germany: A First Analysis by the Pediatric Immunology Working Group (API)

  2023 Journal of Clinical Immunology article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access

  54

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• Long-Term Follow-Up of Newborns with 22q11 Deletion Syndrome and Low TRECs

  2022 Journal of Clinical Immunology article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access

  16

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• Recommendations for uniform definitions used in newborn screening for severe combined immunodeficiency

  2021 Journal of Allergy and Clinical Immunology article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access

  38

  citations
• Economic Evaluation of Different Screening Strategies for Severe Combined Immunodeficiency Based on Real-Life Data

  2021 International Journal of Neonatal Screening article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access

  10

  citations
• Second Tier Testing to Reduce the Number of Non-actionable Secondary Findings and False-Positive Referrals in Newborn Screening for Severe Combined Immunodeficiency

  2021 Journal of Clinical Immunology article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access cited by 2 patents

  25

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• Need for Uniform Definitions in Newborn Screening for SCID: The Next Challenge for Screeners and Immunologists

  2021 International Journal of Neonatal Screening article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access

  0

  citations
• Parents’ Perspectives and Societal Acceptance of Implementation of Newborn Screening for SCID in the Netherlands

  2020 Journal of Clinical Immunology article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access

  51

  citations

16 results