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

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

The Journal of allergy and clinical immunology - 1 Apr 2014

Yu Xiaomin, Almeida Jorge R, Darko Sam, van der Burg Mirjam, DeRavin Suk See, Malech Harry, Gennery Andrew, Chinn Ivan, Markert Mary Louise, Douek Daniel C, Milner Joshua D

Abstract excerpt

BACKGROUND: Human immunodeficiencies characterized by hypomorphic mutations in critical developmental and signaling pathway genes allow for the dissection of the role of these genes in the development of the T-cell receptor (TCR) repertoire and the correlation of alterations of the TCR repertoire with diverse clinical phenotypes. OBJECTIVE: The presence of T cells in patients with Omenn syndrome (OS) and patients...

Read the complete abstract on PubMed

Topics

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

Share to Complementarity Determining Regions
Share to Immunologic Deficiency Syndromes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Interleukin Receptor Common gamma Subunit

Share to Receptors, Antigen, T-Cell

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

Share to Severe Combined Immunodeficiency

Share to T-Lymphocyte Subsets

Share to ZAP-70 Protein-Tyrosine Kinase

Source

Open in PubMed Open full text

Identifiers

PMID: 24406074
DOI: 10.1016/j.jaci.2013.11.018
PMCID: PMC3972286

Genes

ZAP70

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

Human syndromes of immunodeficiency and dysregulation are characterized by distinct defects in T-cell receptor repertoire development.PMID 24406074Read ↗

Somatic mutations and T-cell clonality in patients with immunodeficiency.Semantic proximity Read ↗

Relative CD4 lymphopenia and a skewed memory phenotype are the main immunologic abnormalities in a child with Omenn syndrome due to homozygous RAG1-C2633T hypomorphic mutation.Semantic proximity Read ↗

V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.Semantic proximity Read ↗

Somatic STAT5BN642H mutations shape variable immune landscapes resulting in heterogenous immune diseases.Semantic proximity Read ↗

Atypical immune phenotype in severe combined immunodeficiency patients with novel mutations in IL2RG and JAK3.Semantic proximity Read ↗

Characterization of T and B cell repertoire diversity in patients with RAG deficiencySemantic proximity Read ↗

A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection.Semantic proximity Read ↗

Heterogeneous immune cell composition in patients with combined immunodeficiency.Semantic proximity Read ↗

Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency.Semantic proximity Read ↗

Omenn syndrome does not live by V(D)J recombination alone.Semantic proximity Read ↗

IL2RG-related immunodeficiencies: from SCID to atypical presentations.Semantic proximity Read ↗

Clonal and constricted T cell repertoire in Common Variable Immune Deficiency.Semantic proximity Read ↗

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