Cargando…

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

PURPOSE: Newborn screening (NBS) for severe combined immunodeficiency (SCID) is based on the detection of T-cell receptor excision circles (TRECs). TRECs are a sensitive biomarker for T-cell lymphopenia, but not specific for SCID. This creates a palette of secondary findings associated with low T-ce...

Descripción completa

Detalles Bibliográficos
Autores principales:	Blom, Maartje, Pico-Knijnenburg, Ingrid, Imholz, Sandra, Vissers, Lotte, Schulze, Janika, Werner, Jeannette, Bredius, Robbert, van der Burg, Mirjam
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer US 2021
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8604867/ https://www.ncbi.nlm.nih.gov/pubmed/34370170 http://dx.doi.org/10.1007/s10875-021-01107-2

Ejemplares similares

Future Perspectives of Newborn Screening for Inborn Errors of Immunity
por: Blom, Maartje, et al.
Publicado: (2021)

Epigenetic Immune Cell Counting to Analyze Potential Biomarkers in Preterm Infants: A Proof of Principle in Necrotizing Enterocolitis
por: Schoenaker, Michiel H. D., et al.
Publicado: (2023)

Introducing Newborn Screening for Severe Combined Immunodeficiency (SCID) in the Dutch Neonatal Screening Program
por: Blom, Maartje, et al.
Publicado: (2018)

Economic Evaluation of Different Screening Strategies for Severe Combined Immunodeficiency Based on Real-Life Data
por: van den Akker-van Marle, M. Elske, et al.
Publicado: (2021)

Overview of 15-year severe combined immunodeficiency in the Netherlands: towards newborn blood spot screening
por: de Pagter, Anne P. J., et al.
Publicado: (2015)

Recommendations for uniform definitions used in newborn screening for severe combined immunodeficiency
por: Blom, Maartje, et al.
Publicado: (2022)

Persistent Hypogammaglobulinemia after Receiving Rituximab Post-HSCT Is Not Caused by an Intrinsic B Cell Defect
por: Ott de Bruin, Lisa M., et al.
Publicado: (2023)

Strategies for B-Cell Receptor Repertoire Analysis in Primary Immunodeficiencies: From Severe Combined Immunodeficiency to Common Variable Immunodeficiency
por: IJspeert, Hanna, et al.
Publicado: (2015)

Universal Newborn Screening for Severe Combined Immunodeficiency (SCID)
por: van der Burg, Mirjam, et al.
Publicado: (2019)

EuroFlow Standardized Approach to Diagnostic Immunopheneotyping of Severe PID in Newborns and Young Children
por: Kalina, Tomas, et al.
Publicado: (2020)

Deciphering imprints of impaired memory B-cell maturation in germinal centers of three patients with common variable immunodeficiency
por: van Schouwenburg, Pauline, et al.
Publicado: (2022)

TREC Based Newborn Screening for Severe Combined Immunodeficiency Disease: A Systematic Review
por: van der Spek, Jet, et al.
Publicado: (2015)

Immunodeficiency in Bloom’s Syndrome
por: Schoenaker, Michiel H. D., et al.
Publicado: (2017)

Second-Tier Next Generation Sequencing Integrated in Nationwide Newborn Screening Provides Rapid Molecular Diagnostics of Severe Combined Immunodeficiency
por: Strand, Janne, et al.
Publicado: (2020)

Parents’ Perspectives and Societal Acceptance of Implementation of Newborn Screening for SCID in the Netherlands
por: Blom, Maartje, et al.
Publicado: (2020)

Evaluation of the Antigen-Experienced B-Cell Receptor Repertoire in Healthy Children and Adults
por: IJspeert, Hanna, et al.
Publicado: (2016)

Referral rate and false-positive rates in a hearing screening program among high-risk newborns
por: Thangavelu, Kruthika, et al.
Publicado: (2023)

Induction of neutralizing antibodies against tier 2 human immunodeficiency virus 1 in rhesus macaques infected with tier 1B simian/human immunodeficiency virus
por: Himeno, Ai, et al.
Publicado: (2019)

Dilemma of Reporting Incidental Findings in Newborn Screening Programs for SCID: Parents’ Perspective on Ataxia Telangiectasia
por: Blom, Maartje, et al.
Publicado: (2019)

Optimizing diagnostic methods and stem cell transplantation outcomes in pediatric bone marrow failure: a 50-year single center experience
por: Vissers, Lotte, et al.
Publicado: (2023)

AKT Hyperphosphorylation and T Cell Exhaustion in Down Syndrome
por: Peeters, Daphne, et al.
Publicado: (2022)

CD45RB Glycosylation and Ig Isotype Define Maturation of Functionally Distinct B Cell Subsets in Human Peripheral Blood
por: Koers, Jana, et al.
Publicado: (2022)

PID Comes Full Circle: Applications of V(D)J Recombination Excision Circles in Research, Diagnostics and Newborn Screening of Primary Immunodeficiency Disorders
por: van Zelm, Menno C., et al.
Publicado: (2011)

The advantages of intermediate‐tier, inter‐optometric referral of low risk pigmented lesions
por: Ly, Angelica, et al.
Publicado: (2017)

Editorial: Application of Cytometry in Primary Immunodeficiencies
por: Kalina, Tomas, et al.
Publicado: (2020)

Need for Uniform Definitions in Newborn Screening for SCID: The Next Challenge for Screeners and Immunologists
por: van der Burg, Mirjam
Publicado: (2021)

Combining newborn metabolic and DNA analysis for second-tier testing of methylmalonic acidemia
por: Peng, Gang, et al.
Publicado: (2018)

Genomic Sequencing as a First-Tier Screening Test and Outcomes of Newborn Screening
por: Chen, Ting, et al.
Publicado: (2023)

Educational paper: The expanding clinical and immunological spectrum of severe combined immunodeficiency
por: van der Burg, Mirjam, et al.
Publicado: (2011)

Primary immunodeficiency diseases in the newborn
por: Ozdemir, Oner
Publicado: (2021)

Implementation of Second-Tier Tests in Newborn Screening for Lysosomal Disorders in North Eastern Italy
por: Burlina, Alberto B., et al.
Publicado: (2019)

Second Tier Molecular Genetic Testing in Newborn Screening for Pompe Disease: Landscape and Challenges
por: Smith, Laurie D., et al.
Publicado: (2020)

Increased detection of primary carnitine deficiency through second-tier newborn genetic screening
por: Lin, Yiming, et al.
Publicado: (2021)

Identification of CVID Patients With Defects in Immune Repertoire Formation or Specification
por: van Schouwenburg, Pauline A., et al.
Publicado: (2018)

Factors influencing accuracy of referral and the likelihood of false positive referral by optometrists in Bradford, United Kingdom
por: Davey, Christopher James, et al.
Publicado: (2016)

Role of Tier-0, Tier-1 and Tier-2 Regional Centers in CMS DC04
por: Barrass, T, et al.
Publicado: (2004)

T and NK Cells in IL2RG-Deficient Patient 50 Years After Hematopoietic Stem Cell Transplantation
por: Melsen, Janine E., et al.
Publicado: (2022)

Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular tests
por: Wang, Li-Yun, et al.
Publicado: (2013)

Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I
por: Peck, Dawn S., et al.
Publicado: (2020)

Development of Strategies to Decrease False Positive Results in Newborn Screening
por: Malvagia, Sabrina, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_53jd59t2li6cvhdgr5ren6blc6