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Sponsored Artificial Intelligence: A Modern Approach, Global Edition Artificial Intelligence: A Modern Approach, Global Edition

Author

Jason An

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2 papers indexed here

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Aug 2026

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

TNF Receptor Associated Periodic Syndrome (TRAPS) is a rare autosomal dominant autoinflammatory disorder. It is caused by pathogenic variants in the TNFRSF1A gene which encodes the TNF receptor 1. These mutations impair receptor shedding and disrupt TNFα signaling, leading to uncontrolled inflammation with recurren...

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

To describe a 3-generation family carrying a novel TNFAIP3 truncating variant (p.Gly440*) and to highlight the wide clinical spectrum of Haploinsufficiency of A20 (HA20). We reviewed clinical histories and laboratory findings including genetic testing, in family members across 3 generations. Gene panel testi...

Lujain Alahmadi, Jason An · 0 citations

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