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

Mutation in the TCRα subunit constant gene (TRAC) leads to a human immunodeficiency disorder characterized by a lack of TCRαβ+ T cells.

The Journal of clinical investigation - 1 Feb 2011

Morgan Neil V, Goddard Sarah, Cardno Tony S, McDonald David, Rahman Fatimah, Barge Dawn, Ciupek Andrew, Straatman-Iwanowska Anna, Pasha Shanaz, Guckian Mary, Anderson Graham, Huissoon Aarnoud, Cant Andrew, Tate Warren P, Hambleton Sophie, Maher Eamonn R

Abstract excerpt

Inherited immunodeficiency disorders can be caused by mutations in any one of a large number of genes involved in the function of immune cells. Here, we describe two families with an autosomal recessive inherited immunodeficiency disorder characterized by increased susceptibility to infection and autoimmunity. Genetic linkage studies mapped the disorder to chromosomal region 14q11.2, and a homozygous...

Read the complete abstract on PubMed

Topics

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

Share to Base Sequence
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to HeLa Cells

Share to Immunologic Deficiency Syndromes

Share to Pedigree

Share to Receptors, Antigen, T-Cell, alpha-beta

Share to T-Lymphocytes

Source

Open in PubMed Open full text

Identifiers

PMID: 21206088
DOI: 10.1172/JCI41931
PMCID: PMC3026716

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

Mutation in the TCRα subunit constant gene (TRAC) leads to a human immunodeficiency disorder characterized by a lack of TCRαβ+ T cells.PMID 21206088Read ↗

A Novel Pathogenic Variant in TRAC Gene Associated with SCID Phenotype: Expanding the Genetic and Clinical Spectrum.Semantic proximity Read ↗

Skewed TCR Alpha, but not Beta, Gene Rearrangements and Lymphoma Associated with a Pathogenic TRAC Variant.Semantic proximity Read ↗

The immunopathological landscape of human pre-TCRα deficiency: From rare to common variants.Semantic proximity Read ↗

Immunodeficiency and immune dysregulation associated with proximal defects of T cell receptor signaling.Semantic proximity Read ↗

Human syndromes of immunodeficiency and dysregulation are characterized by distinct defects in T-cell receptor repertoire development.Semantic proximity Read ↗

The Human T-Cell Receptor TCRAC/TCRDC (Cα/Cdelta;) Region: Organization, Sequence, and Evolution of 97.6 kb of DNASemantic proximity Read ↗

The ability to rearrange dual TCRs enhances positive selection, leading to increased Allo- and Autoreactive T cell repertoires.Semantic proximity Read ↗

TACI mutation in common variable immunodeficiency and IgA deficiency.Semantic proximity Read ↗

Molecular basis of common variable 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 ↗

TACI mutations and disease susceptibility in patients with common variable immunodeficiency.Semantic proximity Read ↗

Novel Mutation in the Class II Transactivator Associated with Immunodeficiency and Autoimmunity.Semantic proximity Read ↗

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