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

A novel frameshift variant in TNFRSF13B in a Chinese patient with late-onset combined immunodeficiency.

Rheumatology (Oxford, England) - 1 Jun 2023

Miao Junke, Shen Min

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to East Asian People
Share to Homozygote
Share to Mutation
Share to Pedigree

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Severe Combined Immunodeficiency

Share to Transmembrane Activator and CAML Interactor Protein

Source

Identifiers

PMID: 36469306
DOI: 10.1093/rheumatology/keac681

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel frameshift variant in TNFRSF13B in a Chinese patient with late-onset combined immunodeficiency.PMID 36469306Read ↗

[TNFRSF13B gene mutation in adult patient with common variable immunodeficiency. Case report].Semantic proximity Read ↗

Role of TNFRSF13B variants in patients with common variable immunodeficiencySemantic proximity Read ↗

Clinical and functional characterization of a novel TNFRSF9 variant causing immune dysregulation with predisposition to EBV-driven lymphomagenesisSemantic proximity Read ↗

TNFRSF1A R92Q mutation in association with a multiple sclerosis-like demyelinating syndrome.Semantic proximity Read ↗

Integrative Analysis of the TNFRSF13B Variants in Common Variable Immune DeficiencySemantic proximity Read ↗

A new low-penetrance TNFRSF1A mutation causing atypical periodic fever.Semantic proximity Read ↗

Periodic fever due to a novel TNFRSF1A mutation in a heterozygous Chinese carrier of MEFV E148Q.Semantic proximity Read ↗

Functional consequences of disease-associated mutations in TNFR1 elucidated by transcriptome analysis.Semantic proximity Read ↗

An intermediate form of juvenile Paget's disease caused by a truncating TNFRSF11B mutationSemantic proximity Read ↗

Clinical, genetic, and functional characterization of novel NFKB1 variants in Chinese patients with primary immunodeficiency.Semantic proximity Read ↗

Recurrent pericarditis caused by a rare mutation in the TNFRSF1A gene and with excellent response to anakinra treatment.Semantic proximity Read ↗

Mutation of TNFRSF13B in a child with 22q11 deletion syndrome associated with granulomatous lymphoproliferation.Semantic proximity Read ↗

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