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    Case Report: Successful treatment of spondyloenchondrodysplasia with immune dysregulation using tofacitinib and ruxolitinib: a report of two pediatric cases

    Case Report: Successful treatment of spondyloenchondrodysplasia with immune dysregulation using tofacitinib and ruxolitinib: a report of two pediatric cases by Chengzhu Liu, Zhiwei Xie, Min Wang, Jinhua Chu, Linhai Yang, Kunlong Zhang, Lingling Huang, Songji Tu, Huaju Cai, Zhengyu Wu, Liyuan Wang, Ningling Wang

    Published 2025-07-01

    Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is autosomal recessive hereditary disease caused by tartrate resistant acid phosphatase 5 (ACP5) mutations. The symptoms mainly involve the bone, immune system and nervous system, and the typical manifestations are short stature, abnorma...

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