Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Second-Tier Next Generation Sequencing Integrated in Nationwide Newborn Screening Provides Rapid Molecular Diagnostics of Severe Combined Immunodeficiency

9 Jul 2020

Abstract excerpt

Severe combined immunodeficiency (SCID) and other T cell lymphopenias can be detected during newborn screening (NBS) by measuring T cell receptor excision circles (TRECs) in dried blood spot (DBS) DNA. Second tier next generation sequencing (NGS) with an amplicon based targeted gene panel using the same DBS DNA was introduced as part of our prospective pilot research project in 2015. With written parental...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Congenital Ear and Nasal Anomalies
Share to Immunodeficiency and Autoimmune Disorders
Share to Tracheal and airway disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 32754152
DOI: 10.3389/fimmu.2020.01417

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Second-Tier Next Generation Sequencing Integrated in Nationwide Newborn Screening Provides Rapid Molecular Diagnostics of Severe Combined ImmunodeficiencyPMID 32754152Read ↗

Newborn Screening for Primary Immunodeficiency Diseases: History, Current and Future PracticeSemantic proximity Read ↗

Newborn Screening for Severe Combined Immunodeficiency in the US: Current Status and Approach to ManagementSemantic proximity Read ↗

Newborn Screening for SCID: The very first prospective pilot study from TurkeySemantic proximity Read ↗

Newborn Screening for SCID and Other Severe Primary Immunodeficiency in the Polish-German Transborder Area: Experience From the First 14 Months of Collaboration.Semantic proximity Read ↗

Genomic-Based Newborn Screening for Inborn Errors of Immunity: Practical and Ethical ConsiderationsSemantic proximity Read ↗

Prospective Newborn Screening for SCID in Germany: A first analysis by the Pediatric Immunology Working Group (API)Semantic proximity Read ↗

Newborn screening for SCID: the very first prospective pilot study from TürkiyeSemantic proximity Read ↗

Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing.Semantic proximity Read ↗

A Practical Approach to Newborn Screening for Severe Combined Immunodeficiency Using the T Cell Receptor Excision Circle AssaySemantic proximity Read ↗

High Incidence of Severe Combined Immunodeficiency Disease in Saudi Arabia Detected Through Combined T Cell Receptor Excision Circle and Next Generation Sequencing of Newborn Dried Blood SpotsSemantic proximity Read ↗

Identification of Severe Combined Immunodeficiency by T-Cell Receptor Excision Circles Quantification Using Neonatal Guthrie CardsSemantic proximity Read ↗

Primary immunodeficiency update and newborn screening.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.