Author

Chun Pan

2 papers indexed here

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Review Open access Oct 2026

Integrated genetic and functional analyses reveal the pathogenic effects of a novel STXBP3 variant in very-early-onset inflammatory bowel disease with immunodeficiency

Very early onset inflammatory bowel disease (VEOIBD) is frequently driven by monogenic defects. Pathogenic variants in the syntaxin-binding protein 3 ( STXBP3 ) gene have been implicated in VEOIBD; however, the relationship between specific variant types and clinical manifestations remains incompletely understo...

Chun Pan, Ping Zhang, Wen-Juan Tang et al. · Frontiers in Immunology · 0 citations

Open access Aug 2026

Clinical Insights into RELA-Associated Disease: From Genotype to Phenotype and Exploring Treatment

Background/Objectives: RELA encodes the p65 subunit of NF-κB and plays a critical role in immune regulation, epithelial protection, and anti-apoptotic signaling. Pathogenic RELA variants cause monogenic immune dysregulation with heterogeneous clinical manifestations. However, genotype–phenotype relationships and optima...

Chun Pan, Cui-Fang Zheng, Yu-Huan Wang et al. · Genes · 0 citations