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

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

Scandinavian journal of immunology - 1 Apr 2026

Turan Işılay, Ulaş Selami, Naiboğlu Sezin, Gökmirza Pınar, Al Serdar, Çeliksoy Mehmet Halil, Aydoğmuş Çiğdem

Abstract excerpt

Recombination-activating genes (RAG1 and RAG2) encode lymphoid-specific proteins that are essential for V(D)J recombination during early T- and B-lymphocyte development. Biallelic mutations in these genes result in a broad spectrum of primary immunodeficiency phenotypes, ranging from classical severe combined immunodeficiency (SCID) to combined immunodeficiency, immune dysregulation, autoimmunity, and...

Read the complete abstract on PubMed

Topics

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

Share to B-Lymphocytes
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA-Binding Proteins

Share to Homeodomain Proteins

Share to Infant

Share to Nuclear Proteins

Share to Severe Combined Immunodeficiency

Share to T-Lymphocytes

Source

Identifiers

PMID: 42032428
DOI: 10.1111/sji.70116

Genes

RAG1
RAG2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical Manifestations and Immunologic Phenotype in Patients With RAG1/2 Mutations: A Single Centre Experience and Description of A Novel Mutation.PMID 42032428Read ↗

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

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

RAG Deficiency: Two Genes, Many Diseases.Semantic proximity Read ↗

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

Highly variable clinical phenotypes of hypomorphic RAG1 mutations.Semantic proximity Read ↗

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

Clinical Manifestations, Mutational Analysis, and Immunological Phenotype in Patients with RAG1/2 Mutations: First Cases Series from Mexico and Description of Two Novel Mutations.Semantic proximity Read ↗

Three faces of recombination activating gene 1 (RAG1) mutations.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 ↗

A novel homozygous RAG1 mutation is associated with severe combined immunodeficiency and neurological presentations.Semantic proximity Read ↗

Clinical Manifestations, Mutational Analysis, and Immunological Phenotype in Patients With RAG1/2 Mutations: First Cases Series From Mexico and Description of Two Novel Mutations.Semantic proximity Read ↗

[Clinical characteristics of human recombination activating gene 1 mutations in 8 immunodeficiency patients with diverse phenotypes].Semantic proximity Read ↗

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