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

RAG Deficiency: Two Genes, Many Diseases.

Journal of clinical immunology - 1 Aug 2018

Delmonte Ottavia M, Schuetz Catharina, Notarangelo Luigi D

Abstract excerpt

PURPOSE: To review the clinical and laboratory spectrum of RAG gene defects in humans, and discuss the mechanisms underlying phenotypic heterogeneity, the basis of immune dysregulation, and the current and perspective treatment modalities. METHODS: Literature review and analysis of medical records RESULTS: RAG gene defects in humans are associated with a surprisingly broad spectrum of clinical and immunological...

Read the complete abstract on PubMed

Topics

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

Share to Autoimmunity
Share to Biological Variation, Population
Share to DNA-Binding Proteins

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Genetic Association Studies

Share to Homeodomain Proteins

Share to Immunity

Share to Nuclear Proteins

Share to Severe Combined Immunodeficiency

Source

Open in PubMed Open full text

Identifiers

PMID: 30046960
DOI: 10.1007/s10875-018-0537-4
PMCID: PMC6643099

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

RAG Deficiency: Two Genes, Many Diseases.PMID 30046960Read ↗

RAG deficiencies: Recent advances in disease pathogenesis and novel therapeutic approaches.Semantic proximity Read ↗

Clinical Manifestations and Immunologic Phenotype in Patients With RAG1/2 Mutations: A Single Centre Experience and Description of A Novel Mutation.Semantic proximity Read ↗

Clinical, Immunological, and Molecular Variability of RAG Deficiency: A Retrospective Analysis of 22 RAG Patients.Semantic proximity Read ↗

Recent advances in understanding RAG deficienciesSemantic proximity Read ↗

Human RAG mutations: biochemistry and clinical implications.Semantic proximity Read ↗

Clinical, Immunological and Molecular Variability of RAG Deficiency: a Retrospective Analysis of 22 RAG PatientsSemantic 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 ↗

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

Heterogeneity in RAG1 and RAG2 deficiency: 35 cases from a single-centre.Semantic proximity Read ↗

RAG and RAG defects.Semantic proximity Read ↗

A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.Semantic proximity Read ↗

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

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