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

Agammaglobulinemia associated to nasal polyposis due to a hypomorphic RAG1 mutation in a 12 years old boy.

Clinical immunology (Orlando, Fla.) - 1 Dec 2016

Cifaldi Cristina, Scarselli Alessia, Petricone Davide, Di Cesare Silvia, Chiriaco Maria, Claps Alessia, Rossi Paolo, Calzoni Enrica, Yamazaki Yasuhiro, Notarangelo Luigi Daniele, Di Matteo Gigliola, Cancrini Caterina, Finocchi Andrea

Abstract excerpt

Recombination-activating gene (RAG) 1 and 2 mutations in humans cause T- B- NK+ SCID and Omenn syndrome, but milder phenotypes associated with residual protein activity have been recently described. We report a male patient with a diagnosis of common variable immunodeficiency (CVID) born from non-consanguineous parents, whose immunological phenotype was characterized by severe reduction of B cells and...

Read the complete abstract on PubMed

Topics

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

Share to Agammaglobulinemia
Share to B-Lymphocytes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Common Variable Immunodeficiency

Share to Homeodomain Proteins

Share to Mutation

Share to Nasal Polyps

Share to Phenotype

Source

Identifiers

PMID: 27713031
DOI: 10.1016/j.clim.2016.09.013

Genes

RAG1

Variants

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

Agammaglobulinemia associated to nasal polyposis due to a hypomorphic RAG1 mutation in a 12 years old boy.PMID 27713031Read ↗

A hypomorphic recombination-activating gene 1 (RAG1) mutation resulting in a phenotype resembling common variable immunodeficiency.Semantic proximity Read ↗

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

From variant of uncertain significance to likely pathogenic in two siblings with atypical RAG2 Deficiency: a case report and review of the literature.Semantic proximity Read ↗

Case Report: Whole exome sequencing identifies variation c.2308G>A p.E770K in RAG1 associated with B- T- NK+ severe combined immunodeficiencySemantic proximity Read ↗

From Variant of Uncertain Significance to Likely Pathogenic in Two Siblings with Atypical RAG2 Deficiency: a case report and review of the literatureSemantic proximity Read ↗

From Variant of Uncertain Significance to Likely Pathogenic: Report of Two Siblings with Atypical RAG2 DeficiencySemantic proximity Read ↗

Immunological assessment of a patient with Omenn syndrome resulting from compound heterozygous mutations in the RAG1 gene.Semantic proximity Read ↗

[Analysis of genetic mutations and pathogenesis for two children with 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 ↗

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

Identification of patients with RAG mutations previously diagnosed with common variable immunodeficiency disorders.Semantic proximity Read ↗

From PGT-M Discovery to Mechanism: Functional Validation of novel compound heterozygous RAG1 Mutations in Severe Combined ImmunodeficiencySemantic proximity Read ↗

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