PDF(Pubmed)
Abstract：
Biallelic mutations in the ACP5 gene cause spondyloenchondrodysplasia with immune dysregulation (SPENCDI). SPENCDI is characterized by the phenotypic triad of skeletal dysplasia, innate and adaptive immune dysfunction, and variable neurologic findings ranging from asymptomatic brain calcifications to severe developmental delay with spasticity. Immune dysregulation in SPENCDI is often refractory to standard immunosuppressive treatments. Here, we present the cases of two patients with SPENCDI and recalcitrant autoimmune cytopenias who demonstrated a favorable clinical response to targeted JAK inhibition over a period of more than 3 years. One of the patients exhibited steadily rising IgG levels and a bone marrow biopsy revealed smoldering multiple myeloma. A review of the literature uncovered that approximately half of the SPENCDI patients reported to date exhibited increased IgG levels. Screening for multiple myeloma in SPENCDI patients with rising IgG levels should therefore be considered.
摘要：
ACP5基因双等位基因突变导致脊柱软骨发育不良伴免疫失调(SPENCDI)SPENCDI的特征是骨骼发育不良的表型三联征，先天和适应性免疫功能障碍，和各种神经系统的发现，从无症状的脑钙化到痉挛的严重发育迟缓。SPENCDI中的免疫失调通常对标准免疫抑制治疗是难以治疗的。这里,我们介绍了两名患有SPENCDI和顽固性自身免疫性血细胞减少症的患者,他们在超过3年的时间内对靶向性JAK抑制表现出良好的临床反应.其中一名患者的IgG水平稳步上升，骨髓活检显示多发骨髓瘤。文献综述发现,迄今为止报道的大约一半的SPENCDI患者表现出增加的IgG水平。因此，应考虑在IgG水平升高的SPENCDI患者中筛查多发性骨髓瘤。
