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

Newborn screening for severe T and B cell lymphopenia identifies a fraction of patients with Wiskott-Aldrich syndrome.

Clinical immunology (Orlando, Fla.) - 1 Nov 2014

Borte Stephan, Fasth Anders, von Döbeln Ulrika, Winiarski Jacek, Hammarström Lennart

Abstract excerpt

The lack or marked reduction of recently formed T and B cells provides a basis for neonatal screening for severe combined immunodeficiencies (SCID) and X-linked agammaglobulinemia (XLA). Newborns with other conditions are also identified if a severe T or B cell lymphopenia is present at birth. We retrospectively analyzed Guthrie card samples from 11 children with Wiskott-Aldrich syndrome (WAS), a rare disease...

Read the complete abstract on PubMed

Topics

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

Share to B-Lymphocytes
Share to DNA

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Predisposition to Disease

Share to Infant, Newborn

Share to Lymphopenia

Share to T-Lymphocytes

Share to Wiskott-Aldrich Syndrome

Source

Identifiers

PMID: 25217881
DOI: 10.1016/j.clim.2014.09.003

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Newborn screening for severe T and B cell lymphopenia identifies a fraction of patients with Wiskott-Aldrich syndrome.PMID 25217881Read ↗

Retrospective analysis of TREC based newborn screening results and clinical phenotypes in infants with the 22q11 deletion syndrome.Semantic proximity Read ↗

Newborn Screening for Severe Primary Immunodeficiency Diseases in Sweden-a 2-Year Pilot TREC and KREC Screening Study.Semantic proximity Read ↗

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

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

T-Cell Receptor Excision Circle/Kappa-Deleting Recombination Excision Circle-Based Newborn Screening Program for Severe Combined Immunodeficiency in Kumamoto, JapanSemantic proximity Read ↗

Neonatal screening for severe primary immunodeficiency diseases using high-throughput triplex real-time PCRSemantic proximity Read ↗

TREC and KREC profiling as a representative of thymus and bone marrow output in patients with various inborn errors of immunity.Semantic proximity Read ↗

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

Use of V(D)J recombination excision circles to identify T- and B-cell defects and to monitor the treatment in primary and acquired immunodeficienciesSemantic 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 ↗

Case report: IKZF1-related early-onset CID is expected to be missed in TREC-based SCID screening but can be identified by determination of KREC levels.Semantic proximity Read ↗

A New IL-2RG Gene Mutation in an X-linked SCID Identified through TREC/KREC Screening: a Case Report.Semantic proximity Read ↗

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