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

Partial V(D)J recombination activity leads to Omenn syndrome.

Cell - 29 May 1998

Villa A, Santagata S, Bozzi F, Giliani S, Frattini A, Imberti L, Gatta L B, Ochs H D, Schwarz K, Notarangelo L D, Vezzoni P, Spanopoulou E

Abstract excerpt

Genomic rearrangement of the antigen receptor loci is initiated by the two lymphoid-specific proteins Rag-1 and Rag-2. Null mutations in either of the two proteins abrogate initiation of V(D)J recombination and cause severe combined immunodeficiency with complete absence of mature B and T lymphocytes. We report here that patients with Omenn syndrome, a severe immunodeficiency characterized by the presence of...

Read the complete abstract on PubMed

Topics

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

Share to Genotype
Share to Amino Acid Sequence
Share to DNA-Binding Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Molecular Sequence Data

Share to Mutation

Share to Nuclear Proteins

Share to Protein Binding

Share to Recombination, Genetic

Source

Identifiers

PMID: 9630231
DOI: 10.1016/s0092-8674(00)81448-8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Partial V(D)J recombination activity leads to Omenn syndrome.PMID 9630231Read ↗

Omenn syndrome: a disorder of Rag1 and Rag2 genes.Semantic proximity Read ↗

The genetic and biochemical basis of Omenn syndrome.Semantic proximity Read ↗

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

Compound heterozygous mutation of Rag1 leading to Omenn syndrome.Semantic proximity Read ↗

Analysis of mutations and recombination activity in RAG-deficient patients.Semantic proximity Read ↗

N-terminal RAG1 frameshift mutations in Omenn's syndrome: internal methionine usage leads to partial V(D)J recombination activity and reveals a fundamental role in vivo for the N-terminal domains.Semantic proximity Read ↗

Oligoclonal expansion of T lymphocytes with multiple second-site mutations leads to Omenn syndrome in a patient with RAG1-deficient severe combined immunodeficiency.Semantic proximity Read ↗

HyperIgE in hypomorphic recombination-activating gene defects.Semantic proximity Read ↗

Omenn Syndrome and DNA recombination defects.Semantic proximity Read ↗

Similar recombination-activating gene (RAG) mutations result in similar immunobiological effects but in different clinical phenotypes.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 ↗

Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase activity can cause either T-B-severe combined immune deficiency or Omenn syndrome.Semantic proximity Read ↗

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