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

Case Report: TRNT1 related autoinflammatory syndrome in a patient with primary ciliary dyskinesia.

Frontiers in immunology - 1 Jan 2026

Di Gennaro Simona, Della Casa Francesca, Petraroli Angelica, Borrelli Melissa, Alessio Maria, Orlando Francesca, Naddei Roberta

Abstract excerpt

We report the case of a young woman with primary ciliary dyskinesia (PCD) who was also diagnosed with tRNA nucleotidyl transferase 1 (TRNT1)-related autoinflammatory syndrome, characterized by recurrent episodes of fever and arthralgia beginning at age 16. To our knowledge, this is the first documented case of homozygosity for the c.1246A>G variant in the TRNT1 gene. The patient had a milder clinical phenotype...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Ciliary Motility Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Etanercept

Share to Hereditary Autoinflammatory Diseases

Share to Homozygote

Share to Mutation

Share to Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 42459695
DOI: 10.3389/fimmu.2026.1778403
PMCID: PMC13369275

Genes

TRNT1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Case Report: TRNT1 related autoinflammatory syndrome in a patient with primary ciliary dyskinesia.PMID 42459695Read ↗

Etanercept as a successful therapy in autoinflammatory syndrome related to TRNT1 mutations: a case-based review.Semantic proximity Read ↗

Hypomorphic variant in TRNT1 induces a milder autoinflammatory disease with congenital cataracts and impaired sexual development.Semantic proximity Read ↗

TRNT1 missense mutations define an autoinflammatory disease characterized by recurrent fever, severe anemia, and b-cell immunodeficiencySemantic proximity Read ↗

Expanded phenotype of primary ciliary dyskinesia related to DRC1 pathogenic variant with dysmorphisms and vascular anomalies.Semantic proximity Read ↗

Prognostic Factors for Sideroblastic Anemia with B-cell Immunodeficiency, Periodic Fevers, and Developmental Delay Due to TRNT1 Gene Mutations: A Case Report and Systematic Review.Semantic proximity Read ↗

The First Case of a Korean Patient with a Mutation-Confirmed Tumor Necrosis Factor Receptor-Associated Periodic Syndrome.Semantic proximity Read ↗

Evaluation of otorhinolaryngological manifestations in patients with primary ciliary dyskinesiaSemantic proximity Read ↗

Tumor necrosis factor receptor-associated periodic fever syndrome in a 58-year-old man: caution not to discount TRAPS as a diagnosis in older patients.Semantic proximity Read ↗

Tumour necrosis factor receptor-associated periodic syndrome caused by a rare mutation in the TNFRSF1A gene, and with excellent response to etanercept treatment.Semantic proximity Read ↗

Diseases Associated with Defects in tRNA CCA AdditionSemantic proximity Read ↗

Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors.Semantic proximity Read ↗

Case report of neurofibromatosis type 1 combined with primary ciliary dyskinesia.Semantic proximity Read ↗

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