Peer-reviewedCC BY-NC-NDInternal Medicine
A Case of Adult-Onset TNF Receptor-Associated Periodic Syndrome (TRAPS) with Somatic Mosaicism Treated with an IL-1 Inhibitor
Abstract
Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is a rare autoinflammatory disorder, and adult-onset cases caused by somatic mosaic TNFRSF1A variants are exceptionally rare. A man in his 60s developed recurrent febrile episodes with rash and polyarthralgia and was initially misdiagnosed with a biliary infection and adult-onset Still's disease. Hybrid capture-based next-generation sequencing identified a somatic mosaic TNFRSF1A variant with a variant allele frequency of 19%, thus establishing the diagnosis of TRAPS. Treatment with canakinumab resulted in complete clinical remission and successful glucocorticoid tapering.
Related
- Gut Microbiota Signatures Associated with Metastatic Prostatic Cancer Treated with Androgen Receptor Pathway Inhibitor (ARPI) Therapy.
- Combined SGLT-2 Inhibitor and Mineralocorticoid Receptor Antagonist Therapy: Effects on the Renin–Angiotensin–Aldosterone System in Heart Failure Treatment
- The FDA-approved CDK4/6 inhibitor Abemaciclib is a potent agonist of the β-arrestin-biased atypical chemokine receptor ACKR3
- 1068 Innate and adaptive immune responses and antitumor activity associated with ARV-6723, a PROTAC HPK1 degrader, in exhausted/post-immune checkpoint inhibitor (ICI) preclinical settings
- A Mechanistic Framework for Somatic Mosaicism in Autoinflammatory Diseases Beyond Mendelian Inheritance
BibTeX
@article{warashina2026case,
title = {{A Case of Adult-Onset TNF Receptor-Associated Periodic Syndrome (TRAPS) with Somatic Mosaicism Treated with an IL-1 Inhibitor}},
author = {Aoi Warashina and Motoko Kanemoto and Yasuhiro Hakamata},
journal = {Internal Medicine},
year = {2026},
month = jul,
doi = {10.2169/internalmedicine.7226-26},
url = {https://www.jstage.jst.go.jp/article/internalmedicine/advpub/0/advpub_7226-26/_article},
note = {CC BY-NC-ND},
}
RIS
TY - JOUR
TI - A Case of Adult-Onset TNF Receptor-Associated Periodic Syndrome (TRAPS) with Somatic Mosaicism Treated with an IL-1 Inhibitor
AU - Aoi Warashina
AU - Motoko Kanemoto
AU - Yasuhiro Hakamata
PY - 2026
DA - 2026/07/18
JO - Internal Medicine
DO - 10.2169/internalmedicine.7226-26
UR - https://www.jstage.jst.go.jp/article/internalmedicine/advpub/0/advpub_7226-26/_article
AB - Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is a rare autoinflammatory disorder, and adult-onset cases caused by somatic mosaic TNFRSF1A variants are exceptionally rare. A man in his 60s developed recurrent febrile episodes with rash and polyarthralgia and was initially misdiagnosed with a biliary infection and adult-onset Still's disease. Hybrid capture-based next-generation sequencing identified a somatic mosaic TNFRSF1A variant with a variant allele frequency of 19%, thus establishing the diagnosis of TRAPS. Treatment with canakinumab resulted in complete clinical remission and successful glucocorticoid tapering.
SN - 1349-7235
SN - 0918-2918
ER -