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

Phenotypic and clinical heterogeneity associated with monoallelic TNFRSF13B-A181E mutations in common variable immunodeficiency.

Human immunology - 1 May 2010

Dong Xiangyang, Hoeltzle Michelle V, Hagan John B, Park Miguel A, Li James T, Abraham Roshini S

Abstract excerpt

Mutations in the TNFRSF13B (TACI) gene have been reported to be associated with Common Variable ImmunoDeficiency (CVID). Of 48 patients evaluated within the immunodeficiency clinic, 39 had CVID, 6 had symptomatic IgA deficiency (IgAD) with or without IgG2 and IgG4 subclass deficiency, while 3 had unclassified immune dysregulatory disorders. In all 48 patients TACI genetic testing was performed, and monoallelic...

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 Cell Separation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Common Variable Immunodeficiency

Share to Flow Cytometry

Share to Immunoblotting

Share to Immunophenotyping

Share to Polymerase Chain Reaction

Share to Transmembrane Activator and CAML Interactor Protein

Source

Identifiers

PMID: 20156508
DOI: 10.1016/j.humimm.2010.02.002

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Phenotypic and clinical heterogeneity associated with monoallelic TNFRSF13B-A181E mutations in common variable immunodeficiency.PMID 20156508Read ↗

TACI mutation in common variable immunodeficiency and IgA deficiency.Semantic proximity Read ↗

Immunological characteristics and two novel mutations in TACI in a cohort of 28 pediatric patients with common variable immunodeficiency.Semantic proximity Read ↗

Clinical Associations of Biallelic and Monoallelic TNFRSF13B Variants in Italian Primary Antibody Deficiency Syndromes.Semantic proximity Read ↗

TACI mutations and disease susceptibility in patients with common variable immunodeficiency.Semantic proximity Read ↗

Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes.Semantic proximity Read ↗

TNFRSF13B/TACI alterations in Greek patients with antibody deficiencies.Semantic proximity Read ↗

TACI is mutant in common variable immunodeficiency and IgA deficiency.Semantic proximity Read ↗

A novel compound heterozygous TACI mutation in an autosomal recessive common variable immunodeficiency (CVID) family.Semantic proximity Read ↗

Sequence variants of the TNFRSF13B gene in Czech CVID and IgAD patients in the context of other populations.Semantic proximity Read ↗

Immunophenotype, Clinical Effect, and Comparison of TNFRSF13B/TACI Mutations A Single-Center Retrospective Cohort Study of 34 patients.Semantic proximity Read ↗

Novel mutations in TACI (TNFRSF13B) causing common variable immunodeficiency.Semantic proximity Read ↗

Transmembrane activator and calcium-modulator and cyclophilin ligand interactor mutations in common variable immunodeficiency.Semantic proximity Read ↗

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