Response to: An International
ASXL3
Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations,
American Journal of Medical Genetics Part A | September 29, 2025 | Volume: 200 | Issue: 2 | Pages: 559-561
INTRODUCTION: Determine contemporary rates of early mucosal recovery in children with celiac disease (CeD). METHODS: Multicenter retrospective cohort study in Canada and the United States. Children diagnosed with CeD between 2016 and 2021 who underwent a follow-up biopsy within 15 months of diagnosis were included. RESULTS: Overall, 96 of 130 children (74%) had mucosal recovery, including 48% children (12/25) who were assessed within 3 months. Musculoskeletal symptoms at diagnosis were the only clinical characteristic associated with persistent enteropathy. DISCUSSION: While mucosal recovery can occur within months, more than a quarter of children with CeD had persistent enteropathy within 15 months of treatment.