ArticleMolecular genetics & genomic medicine2019
Somatic mosaicism in adult-onset TNF receptor-associated periodic syndrome (TRAPS).
Article in Molecular genetics & genomic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 39 citations in OpenAlex.
- A Mechanistic Framework for Somatic Mosaicism in Autoinflammatory Diseases Beyond Mendelian Inheritance.International journal of molecular sciences · 2026Review
- Monogenic autoimmune and autoinflammatory disorders in adulthood: recent discoveries and implications for rheumatology practice.Rheumatology (Oxford, England) · 2026Review
- Long-term Effectiveness and Safety of Canakinumab in Patients with TRAPS: Analysis of the RELIANCE Non-Interventional Study.Rheumatology and therapy · 2026Article
- Incomplete penetrance in inborn errors of immunity: A skeleton in the closet-The sequel.Journal of human immunity · 2025Review
- Identifying genetic errors of immunity due to mosaicism.The Journal of experimental medicine · 2025Review
- Human inborn errors of immunity: 2024 update on the classification from the International Union of Immunological Societies Expert Committee.Journal of human immunity · 2025Article
- Somatic mosaicism in genetic errors of immunity.The Journal of allergy and clinical immunology · 2025Review
- The discovery of NLRP3 and its function in cryopyrin-associated periodic syndromes and innate immunity.Immunological reviews · 2024Review
- Cutaneous vasculitis in autoinflammatory diseases.The Journal of dermatology · 2024Review
- Spanish cohort of VEXAS syndrome: clinical manifestations, outcome of treatments and novel evidences aboutAnnals of the rheumatic diseases · 2023Article
- Somatic mosaicism in inborn errors of immunity: Current knowledge, challenges, and future perspectives.Seminars in immunology · 2023Review
- IL-1 and autoinflammatory disease: biology, pathogenesis and therapeutic targeting.Nature reviews. Rheumatology · 2022Review
- Improving Diagnosis and Clinical Management of Acquired Systemic Autoinflammatory Diseases.Journal of inflammation research · 2022Review
- New insights on multigenic autoinflammatory diseases.Therapeutic advances in musculoskeletal disease · 2022Review
- Monogenic Adult-Onset Inborn Errors of Immunity.Frontiers in immunology · 2021Review
- Revisiting TNF Receptor-Associated Periodic Syndrome (TRAPS): Current Perspectives.International journal of molecular sciences · 2020Review
- Somatic mosaicism in adult-onset TNF receptor-associated periodic syndrome (TRAPS).Molecular genetics & genomic medicine · 2019Article
- Natural Killer Cells in Systemic Autoinflammatory Diseases: A Focus on Systemic Juvenile Idiopathic Arthritis and Macrophage Activation Syndrome.Frontiers in immunology · 2019Review
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSomatic mosaicism is to date an uncommon finding in genetic autoinflammatory syndromes such as Cryopyrin-associated periodic syndrome, Blau syndrome, and TNF receptor-associated periodic syndrome (TRAPS). However, somatic mosaicism may be particularly important in adult-onset or atypical phenotypes of these conditions. Herein, we report a unique adult-onset TRAPS patient presenting with intermittent daily fever for 3 weeks, rash, peritonitis, and lymphadenopathy, who was found with hematopoietic mosaicism involving different white blood cell populations.
methodsPatient's lymphocyte genomic DNA was initially analyzed by periodic fever seven-gene next-generation sequencing panel. Genomic DNAs extracted from patient's hair roots, buccal swab, and subpopulations of white blood cells were subsequently examined on the identified TNFRSF1A variant using Sanger sequencing.
resultsA de novo mosaic missense variant, c.265 T>C(p.Phe89Leu), in the TNFRSF1A gene was found in the patient's buccal swab, B cells, neutrophils, and NK cells but not detected in monocytes, T cells, and hair roots.
conclusionThese data provide additional information about somatic mosaicism in autoinflammatory conditions and provide new insights regarding cellular players that are indispensable for the phenotypic expression of TRAPS.
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