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The TLR-M-CSF axis is implicated in increased bone turnover and curve progression in adolescent idiopathic scoliosis
Published 2025-03-01“…This indicates that facet joint OA is implicated and potentially contributes to AIS progression. …”
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Dual variants of uncertain significance in a case of hyper-IgM syndrome: implications for diagnosis and management
Published 2025-06-01“…The overlapping clinical presentations of different gene mutations complicate diagnosis and management.ObjectiveThis study aims to elucidate the clinical implications of concurrent AICDA and IKBKB homozygous variants in a pediatric patient diagnosed with hyper-IgM syndrome.MethodsWe present immunological and genetic analysis of a Tunisian patient with two homozygous variants of uncertain significance (VUSs) in the IKBKB and AICDA genes, suspected of causing hyper-IgM and immune deficiency. …”
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