Identification of Novel IL-10RA Variant in Infantile-Onset Inflammatory Bowel Disease: A Case Series With Preliminary Genotype-Phenotype Correlation From Two Chinese Families

Interleukin-10 (IL-10) signaling is critical for intestinal immune homeostasis, and defects in this pathway underlie infantile-onset inflammatory bowel disease (IOIBD). While numerous IL-10-related mutations have been reported, their pathogenic mechanisms and genotype-phenotype correlations remain incompletely understood. Here, we describe four patients from two Chinese families with IOIBD harboring novel IL-10RA mutations. We detailed the clinical presentations and performed bioinformatics analyses to assess mutation conservation, pathogenicity, and structural impact via 3D modeling. Our findings broaden the IL-10RA mutation spectrum and provide preliminary genetic insights that may support clinical diagnosis and prenatal screening for IOIBD in Chinese populations, while also highlighting the need for further functional validation.