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

Topics Community

Article

Lessons in gene hunting: a RAG1 mutation presenting with agammaglobulinemia and absence of B cells.

The Journal of allergy and clinical immunology - 1 Oct 2014

Hedayat Mona, Massaad Michel J, Lee Yu Nee, Conley Mary Ellen, Orange Jordan S, Ohsumi Toshiro K, Al-Herz Waleed, Notarangelo Luigi D, Geha Raif S, Chou Janet

Abstract excerpt

No abstract is available from the source.

Topics

Agammaglobulinemia
B-Lymphocytes
Child
Child, Preschool
DNA
Disease Progression
Early Diagnosis
Fatal Outcome
Genetic Testing
Genome
Homeodomain Proteins
Homozygote
Humans
Infant

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Killer Cells, Natural

Lymphocyte Depletion

Male

Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 24985406
DOI: 10.1016/j.jaci.2014.04.037
PMCID: PMC4186892

Genes

RAG1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Lessons in gene hunting: a RAG1 mutation presenting with agammaglobulinemia and absence of B cells.PMID 24985406Read ↗

Agammaglobulinemia: causative mutations and their implications for novel therapies.Semantic proximity Read ↗

Agammaglobulinemia with normal B-cell numbers in a patient lacking Bob1.Semantic proximity Read ↗

B Cells and COVID-19: Lessons From Patients With Agammaglobulinemia and the Study of Functional B-Cell Polymorphisms.Semantic proximity Read ↗

RAG1 deficiency with a shifting B cell phenotype and chromosomal instability.Semantic proximity Read ↗

Autosomal recessive agammaglobulinemic patient with a novel large deletion in IGHM presenting with mild clinical phenotype.Semantic proximity Read ↗

A novel homozygous RAG1 mutation in a girl presenting with granulomas and alopecia capitis totalis.Semantic proximity Read ↗

Molecular pathology of X-linked immunoglobulin deficiency with normal or elevated IgM (HIGMX-1).Semantic proximity Read ↗

Severe combined immunodeficiency syndrome with RAG1 mutation gene - case reportSemantic proximity Read ↗

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

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

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

Idiopathic CD4+ T lymphopenia without autoimmunity or granulomatous disease in the slipstream of RAG mutations.Semantic proximity Read ↗

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