4.5 Review

Efficient screening strategies for severe combined immunodeficiencies in newborns

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Article Medicine, General & Internal

Measuring the effect of newborn screening on survival after haematopoietic cell transplantation for severe combined immunodeficiency: a 36-year longitudinal study from the Primary Immune DeficiencyTreatment Consortium

Monica S. Thakar et al.

Summary: This study found that population-based newborn screening plays a crucial role in early detection and prompt treatment of SCID. The overall 5-year survival rate has significantly increased with the implementation of newborn screening, and the promotion of this screening method can benefit public health programs globally.

LANCET (2023)

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Hematopoietic cell transplantation in severe combined immunodeficiency: The SCETIDE 2006-2014 European cohort

Arjan C. Lankester et al.

Summary: This comprehensive multicenter analysis examined the outcomes of hematopoietic stem cell transplantation (HSCT) in patients with severe combined immunodeficiency (SCID) and analyzed the factors affecting immune reconstitution (IR) and long-term clinical outcomes. The results showed improved overall survival (OS) and event-free survival (EFS) in all genotypes and donor types. Pretransplantation infections and the use of mismatched related donors were associated with less favorable OS and EFS. The study also identified factors such as specific genetic mutations, conditioning regimen, matched donor HSCT, and levels of naive CD4 T lymphocytes as independent predictors of favorable clinical and immunologic outcomes.

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2022)

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

Maartje Blom et al.

Summary: The study identified a lack of uniform terminology in international SCID NBS programs, hindering comparisons. By aligning terminologies and clarifying distinctions, international knowledge exchange can be promoted to optimize health outcomes for children worldwide. Collaboration among specialists in each disorder for which NBS is conducted is recommended to standardize definitions and outcomes registration.

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2022)

Article Immunology

TREC/KREC Newborn Screening followed by Next-Generation Sequencing for Severe Combined Immunodeficiency in Japan

Manabu Wakamatsu et al.

Summary: By combining TREC and TREC/KREC NBS programs with diagnostic NGS analysis, this study provides a useful method for early identification and rapid molecular evaluation of not only SCID but also different non-SCID PIDs.

JOURNAL OF CLINICAL IMMUNOLOGY (2022)

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The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity

Aziz Bousfiha et al.

Summary: The article provides an updated phenotypic classification of IEI for clinicians, covering 485 underlying phenotypes, including novel monogenic defects and an autoimmune phenocopy.

JOURNAL OF CLINICAL IMMUNOLOGY (2022)

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Infections in Infants with SCID: Isolation, Infection Screening, and Prophylaxis in PIDTC Centers

Morna J. Dorsey et al.

Summary: The study found that patients diagnosed via NBS had higher infection rates compared to those diagnosed via FH, with no significant difference in infection rates between outpatient and inpatient management. PIDTC centers had varied pre-HSCT management practices, but there was more consistency in the use of immunoglobulin replacement and antimicrobial prophylaxis.

JOURNAL OF CLINICAL IMMUNOLOGY (2021)

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Parents' Perspectives and Societal Acceptance of Implementation of Newborn Screening for SCID in the Netherlands

Maartje Blom et al.

Summary: The majority of parents expressed support for NBS for SCID from both a public health and personal perspective, with emphasis on the emotional impact of an abnormal screening result. The study highlights the importance of uniform follow-up protocols and adequate information provision to address (long-term) stress and anxiety experienced by parents during and after referral. Moving towards universal SCID screening for all infants requires a close partnership of stakeholders, immunologists, geneticists, and pediatricians-immunologists in different countries.

JOURNAL OF CLINICAL IMMUNOLOGY (2021)

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An appraisal of the Wilson & Jungner criteria in the context of genomic-based newborn screening for inborn errors of immunity

Jovanka R. King et al.

Summary: Wilson and Jungner's recommendations have guided newborn screening programs for the past 50 years, but the advancement in genomic technologies and changing landscape in clinical practice and ethical considerations has led to a call for a review of screening criteria. Inborn errors of immunity (IEI) are a heterogeneous group of disorders associated with significant morbidity and mortality, highlighting the need to consider their inclusion in newborn screening programs using next-generation sequencing technology.

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2021)

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The successful inclusion of ADA SCID in Tuscany expanded newborn screening program

Sabrina Malvagia et al.

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

Maartje Blom et al.

Summary: The use of a second PCR analysis method and different primers can reduce false-positive referrals in newborn screening for SCID. Adjusting the TREC cutoff value or screening algorithm can lower referral rates, but cannot prevent all false-positive referrals.

JOURNAL OF CLINICAL IMMUNOLOGY (2021)

Article Genetics & Heredity

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

M. Elske van den Akker-van Marle et al.

Summary: This study estimates the cost-effectiveness of different newborn screening strategies for SCID using real-life data from the Netherlands, showing higher costs and less favorable cost-effectiveness estimates than analyses based on hypothetical data. Strategies with a lower number of referrals are economically favorable, indicating the importance of verifying model assumptions with real-life data.

INTERNATIONAL JOURNAL OF NEONATAL SCREENING (2021)

Article Genetics & Heredity

Newborn Screening for Severe Combined Immunodeficiency: Do Preterm Infants Require Special Consideration?

Anne E. Atkins et al.

Summary: The study evaluated the difference in TRECs levels between preterm and full-term newborns, finding a steady increase in TRECs as gestational age increases. These results provide scientific rationale for Wisconsin's current premature infant screening procedure.

INTERNATIONAL JOURNAL OF NEONATAL SCREENING (2021)

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Diagnosis and management of severe combined immunodeficiency in Australia and New Zealand

Stephanie Richards et al.

JOURNAL OF PAEDIATRICS AND CHILD HEALTH (2020)

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Cost-effectiveness of newborn screening for severe combined immunodeficiency

Catharina P. B. Van der Ploeg et al.

EUROPEAN JOURNAL OF PEDIATRICS (2019)

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Nonsevere combined immunodeficiency T-cell lymphopenia identified through newborn screening

Meera Patrawala et al.

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What to Do with an Abnormal Newborn Screen for Severe Combined Immune Deficiency

Hey J. Chong et al.

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Hematopoietic Stem Cell Transplantation for Severe Combined Immunodeficiency (SCID)

Elie Haddad et al.

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Newborn screening for severe combined immunodeficiency and T-cell lymphopenia

Jennifer M. Puck

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A Cost-Effectiveness Analysis of Newborn Screening for Severe Combined Immunodeficiency in the UK

Alice Bessey et al.

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Development of a Multiplex Real-Time PCR Assay for the Newborn Screening of SCID, SMA, and XLA

Cristina Gutierrez-Mateo et al.

INTERNATIONAL JOURNAL OF NEONATAL SCREENING (2019)

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A Severe Neonatal Lymphopenia Associated With Administration of Azathioprine to the Mother in a Context of Crohn's Disease

Caroline Thomas et al.

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Newborn Screening for Severe Combined Immunodeficiency

John Routes et al.

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Newborn Screening History, Current Status, and Future Directions

Ayman W. El-Hattab et al.

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Epigenetic immune cell counting in human blood samples for immunodiagnostics

Udo Baron et al.

SCIENCE TRANSLATIONAL MEDICINE (2018)

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Treatment of infants identified as having severe combined immunodeficiency by means of newborn screening

Morna J. Dorsey et al.

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2017)

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Causes of low neonatal T-cell receptor excision circles: A systematic review

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Profound T-cell lymphopenia associated with prenatal exposure to purine antagonists detected by TREC newborn screening

Caroline Y. Kuo et al.

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Beatriz de Felipe et al.

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Screening of Neonatal UK Dried Blood Spots Using a Duplex TREC Screening Assay

Stuart P. Adams et al.

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Newborn Screening for SCID in New York State: Experience from the First Two Years

Beth H. Vogel et al.

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The inclusion of ADA-SCID in expanded newborn screening by tandem mass spectrometry

Giancarlo la Marca et al.

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Transplantation Outcomes for Severe Combined Immunodeficiency, 2000-2009

Sung-Yun Pai et al.

NEW ENGLAND JOURNAL OF MEDICINE (2014)

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The impact of false-positive newborn screening results on families: a qualitative study

Johanna L. Schmidt et al.

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Decision analysis, economic evaluation, and newborn screening: challenges and opportunities

Lisa A. Prosser et al.

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The long quest for neonatal screening for severe combined immunodeficiency

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A Markov model to analyze cost-effectiveness of screening for severe combined immunodeficiency (SCID)

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