在天生免疫系统错误（IEI）的儿童中，后HSCT非骨质疏松骨病的数据不足。我们在一家大型三级儿童免疫中心收集了IEI儿童的HSCT后非骨质疏松骨病数据，跨越了两个十年。分析了2000年1月1日至2018年12月31日期间进行的IEI allo-HSCT骨病数据，包括截至2022年7月尾时还活着的病人。记录中分析了骨病和危险因素。排除标准包括由基础IEI引起的骨密度降低、骨折和骨骼畸形以及短身材但没有其他骨骼病理学病变。骨病分为5个类别：骨肿瘤、骨发育不良、骨无血供性坏死、骨变形演变和大腿骨上端滑脱。2000年至2018年间，共有429名儿童接受了HSCT，其中340人在最后一次评估时还活着。在HSCT后，非骨质疏松骨病出现在9.4%的病人中（32/340人，平均HSCT后7.8年）。11名患者（34％）出现了多种骨病。32例患者中，17例（53％）出现了双侧骨病。大多数患者接受了通过treosulfan为基础的加强治疗（26/32人，81.2％）。完全有65.6%（21/32）的患者有长期使用类固醇的病史（>6个月）。66％的患者出现了疼痛症状，43.7％的患者需要手术干预。骨病的最高发生率在Wiskott-Aldrich综合症（WAS）患者中看到（n = 8/34; 23.5％），其次是出血性细胞吞噬细胞淋巴组织细胞增生症患者（n = 3/16; 18.8％）。在IEI allo-HSCT的长期幸存者中，非骨质疏松骨病并不罕见。大多数患者至少5年后才出现不适的症状，强调了对IEI患者进行持续的骨健康评估的必要性。术后发现生长迟缓和骨病的儿童应接受骨骼调查以排除HSCT后骨骼发育不良的发展。Wiskott-Aldrich综合症患者中看到了骨病的发生率和复杂性的增加。© 2023. Crown.

There is a lack of data on post-HSCT non-osteopenic bone pathology specifically for children with inborn errors of immunity (IEI). We collected data on non-osteopenic bone pathology in children with IEI post-HSCT over two decades in a large tertiary pediatric immunology center.Descriptive study with data analysis of bone pathology in allo-HSCT for IEI was performed between 1/1/2000 to 31/12/2018 including patients alive at follow-up to July 2022. Records were analyzed for bone pathology and risk factors. Exclusion criteria included isolated reduced bone density, fractures, and skeletal anomalies due to underlying IEI and short stature without other bone pathology. Bone pathologies were divided into 5 categories: bone tumors; skeletal dysplasia; avascular necrosis; evolving bone deformities; slipped upper femoral epiphysis.A total of 429 children received HSCT between 2000 and 2018; 340 are alive at last assessment. Non-osteopenic bone pathology was observed post-HSCT in 9.4% of patients (32/340, mean 7.8 years post-HSCT). Eleven patients (34%) had > 1 category of bone pathology. Seventeen patients (17/32; 53%) presented with bilateral bone pathology. The majority of patients received treosulfan-based conditioning (26/32; 81.2%). Totally, 65.6% (21/32) of patients had a history of prolonged steroid use (> 6 months). Pain was the presenting symptom in 66% of patients, and surgical intervention was required in 43.7%. The highest incidence of bone pathologies was seen in Wiskott-Aldrich syndrome (WAS) (n = 8/34; 23.5%) followed by hemophagocytic lymphohistiocytosis patients (n = 3/16; 18.8%).Non-osteopenic bone pathology in long-term survivors of allo-HSCT for IEI is not rare. Most patients did not present with complaints until at least 5 years post-HSCT highlighting the need for ongoing bone health assessment for patients with IEI. Children presenting with stunted growth and bone pathology post-HSCT should undergo skeletal survey to rule out development of post-HSCT skeletal dysplasia. Increased rates and complexity of bone pathology were seen amongst patients with Wiskott-Aldrich syndrome.© 2023. Crown.