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

Novel NLRP12 mutations associated with intestinal amyloidosis in a patient diagnosed with common variable immunodeficiency.

Clinical immunology (Orlando, Fla.) - 1 Oct 2014

Borte Stephan, Celiksoy Mehmet Halil, Menzel Volker, Ozkaya Ozan, Ozen Fatma Zeynep, Hammarström Lennart, Yildiran Alisan

Abstract excerpt

Heterozygous mutations in the NLRP12 gene have been found in patients with systemic auto-inflammatory diseases. However, the NLRP12-associated periodic fever syndromes show a wide clinical spectrum, including patients without classical diagnostic symptoms. Here, we report on a 20-year-old female patient diagnosed with common variable immunodeficiency (CVID), who developed intestinal amyloidosis and carried novel...

Read the complete abstract on PubMed

Topics

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

Share to Amyloidosis
Share to Common Variable Immunodeficiency

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Expression Regulation

Share to Intestinal Diseases

Share to Intracellular Signaling Peptides and Proteins

Share to Mutation

Share to Young Adult

Source

Identifiers

PMID: 25064839
DOI: 10.1016/j.clim.2014.07.003

Genes

NLRP12

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

Novel NLRP12 mutations associated with intestinal amyloidosis in a patient diagnosed with common variable immunodeficiency.PMID 25064839Read ↗

Multigene sequencing reveals heterogeneity of NLRP12-related autoinflammatory disorders.Semantic proximity Read ↗

NLRP12-associated autoinflammatory disease: A novel causal mutation and bioinformatics analyses.Semantic proximity Read ↗

Clinical heterogeneity of NLRP12-associated autoinflammatory diseasesSemantic proximity Read ↗

NLRP12 autoinflammatory disease: a Chinese case series and literature review.Semantic proximity Read ↗

Complexity in unclassified auto-inflammatory disease: a case report illustrating the potential for disease arising from the allelic burden of multiple variants.Semantic proximity Read ↗

NLRP12-associated autoinflammatory disease: much more than the FCAS phenotype.Semantic proximity Read ↗

Novel Variant in the NLRP12 Gene: Insights From a Case Report and Systematic Review.Semantic proximity Read ↗

The clinical phenotype and genotype of NLRP12-autoinflammatory disease: a Chinese case series with literature review.Semantic proximity Read ↗

NLRP12-associated systemic autoinflammatory diseases in children.Semantic proximity Read ↗

Familial Mediterranean fever and related periodic fever syndromes/autoinflammatory diseasesSemantic proximity Read ↗

Genetic variations in NLRP3 and NLRP12 genes in adult-onset patients with autoinflammatory diseases: a comparative study.Semantic proximity Read ↗

NLRP12 gene mutations and auto-inflammatory diseases: ever-changing evidence.Semantic proximity Read ↗

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