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Author

Jason An

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Aug 2026

A Novel TNFRSF1A Gene Variant in a Patient with Recurrent Fevers and Amyloidosis: A Case Report

A case of TRAPS complicated by amyloidosis and associated with a novel variant in TNFRSF1A, adding to the literature of mutations causing TRAPS is presented, highlighting the importance of early recognition of autoinflammatory diseases like TRAPS.

Rayan Farahvash, Budvin Wijetillake, C. Pagnoux et al. · 0 citations
Review Aug 2026

A Novel TNFAIP3 Truncating Variant in a Multigenerational Family with Haploinsufficiency of A20: Expanding the Disease Spectrum from Subclinical Inflammation to Autoimmune Endocrinopathy

A novel truncating variant in TNFAIP3 causing HA20 in a multigenerational family is reported, in line with the current literature and demonstrates the phenotypic variability of HA20 even within the same family, ranging from silent inflammation to Behçet-like disease to organ-specific autoimmunity.

Lujain Alahmadi, Jason An · 0 citations

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