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

Omenn syndrome does not live by V(D)J recombination alone.

Current opinion in allergy and clinical immunology - 1 Dec 2011

Marrella Veronica, Maina Virginia, Villa Anna

Abstract excerpt

PURPOSE OF REVIEW: During the past decade, easy access to sequence analyses has allowed us to increase our understanding of the pathogenesis of severe combined immunodeficiencies. Here, we describe the expanding clinical and immunological spectrum associated with Omenn syndrome phenotype. In particular, we review the cellular and molecular mechanisms involved in the pathophysiology of 'classical' Omenn syndrome...

Read the complete abstract on PubMed

Topics

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

Share to Adenosine Deaminase
Share to B-Lymphocytes
Share to Homeodomain Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Interleukin-7

Share to Lymphocyte Activation

Share to Severe Combined Immunodeficiency

Share to T-Lymphocytes

Share to V(D)J Recombination

Source

Identifiers

PMID: 22001740
DOI: 10.1097/ACI.0b013e32834c311a

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Omenn syndrome does not live by V(D)J recombination alone.PMID 22001740Read ↗

Omenn Syndrome and DNA recombination defects.Semantic proximity Read ↗

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

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

Omenn syndrome caused by a novel homozygous mutation in recombination activating gene 1.Semantic proximity Read ↗

[Analysis of genetic mutations and pathogenesis for two children with Omenn syndrome].Semantic proximity Read ↗

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

More than just SCID--the phenotypic range of combined immunodeficiencies associated with mutations in the recombinase activating genes (RAG) 1 and 2.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 ↗

Omenn syndrome--review of several phenotypes of Omenn syndrome and RAG1/RAG2 mutations in Japan.Semantic proximity Read ↗

Diagnosing Omenn syndrome.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 ↗

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