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

Severe combined immunodeficiency caused by a splicing abnormality of the CD3delta gene.

European journal of pediatrics - 1 May 2005

Takada Hidetoshi, Nomura Akihiko, Roifman Chaim M, Hara Toshiro

Abstract excerpt

UNLABELLED: CD3delta deficiency is a recently identified rare form of severe combined immunodeficiency. We analysed the CD3delta gene in a Japanese family with severe combined immunodeficiency. The patients lacked T-cells with normal numbers of B-cells and natural killer cells in peripheral blood. We found a novel homozygous mutation in the splicing acceptor site of intron 2 (IVS2-2A --> G) in these patients....

Read the complete abstract on PubMed

Topics

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

Share to Alternative Splicing
Share to Asian People
Share to CD3 Complex

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Introns

Share to Lymphocytes

Share to Severe Combined Immunodeficiency

Share to Thymus Gland

Source

Identifiers

PMID: 15729559
DOI: 10.1007/s00431-005-1639-6

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

Severe combined immunodeficiency caused by a splicing abnormality of the CD3delta gene.PMID 15729559Read ↗

CD3 delta immunodeficiency.Semantic proximity Read ↗

Deep intronic mis-splicing mutation in JAK3 gene underlies T-B+NK- severe combined immunodeficiency phenotype.Semantic proximity Read ↗

Effect of CD3delta deficiency on maturation of alpha/beta and gamma/delta T-cell lineages in severe combined immunodeficiency.Semantic proximity Read ↗

Brief report: primary immunodeficiency caused by mutations in the gene encoding the CD3-gamma subunit of the T-lymphocyte receptor.Semantic proximity Read ↗

Novel compound heterozygous mutations in a Japanese girl with Janus kinase 3 deficiency.Semantic proximity Read ↗

CD3 deficiencies.Semantic proximity Read ↗

[Expression anomalies of the CD3-TCR complex expression and immunodeficiencies].Semantic proximity Read ↗

Detection of T lymphocytes with a second-site mutation in skin lesions of atypical X-linked severe combined immunodeficiency mimicking Omenn syndrome.Semantic proximity Read ↗

CD3G gene defects in familial autoimmune thyroiditis.Semantic proximity Read ↗

Differential biological role of CD3 chains revealed by human immunodeficiencies.Semantic proximity Read ↗

POLD3 deficiency is associated with severe combined immunodeficiency, neurodevelopmental delay, and hearing impairment.Semantic proximity Read ↗

A leaky mutation in CD3D differentially affects αβ and γδ T cells and leads to a Tαβ-Tγδ+B+NK+ human SCID.Semantic proximity Read ↗

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