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CASE REPORT article

Front. Pharmacol.

Sec. Neuropharmacology

Volume 16 - 2025 | doi: 10.3389/fphar.2025.1588003

Successful Treatment of spondyloenchondrodysplasia with Immune Dysregulation Using Tofacitinib and Ruxolitinib: A Report of Two Pediatric Cases

Provisionally accepted
Chengzhu LiuChengzhu Liu1Zhiwei XieZhiwei Xie1Min WangMin Wang2Jinhua ChuJinhua Chu1Linhai YangLinhai Yang1Kunlong ZhangKunlong Zhang1Lingling HuangLingling Huang1Songji TuSongji Tu1Huaju CaiHuaju Cai1Zhengyu WuZhengyu Wu1Liyuan WangLiyuan Wang1Ningling WangNingling Wang1*
  • 1Department of Pediatric Hematology and Oncology, the Second Affiliated Hospital of Anhui Medical University, Hefei, China
  • 2Department of Hematology and Oncology, Anhui Provincial Children’s Hospital, Hefei, China

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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, abnormal development of long diaphyseal epiphysis, flat vertebra, and prone to various autoimmune diseases. Some children have muscle spasm, mild mental retardation, intracranial calcification and other neurological manifestations. Here we reported two cases of SPENCDI caused by a new mutation in ACP5. The clinical manifestations were autoimmune hemolytic anemia, immune thrombocytopenia, abnormal bone development, intracranial calcification, short stature, and growth retardation. The patients were girls and diagnosed with SPENCDI by genetic test.

Keywords: Spondyloenchondrodysplasia, ACP5, case report, genetic disease, pediatric

Received: 24 Mar 2025; Accepted: 15 Jul 2025.

Copyright: © 2025 Liu, Xie, Wang, Chu, Yang, Zhang, Huang, Tu, Cai, Wu, Wang and Wang. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

* Correspondence: Ningling Wang, Department of Pediatric Hematology and Oncology, the Second Affiliated Hospital of Anhui Medical University, Hefei, China

Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.

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