Abstract：
Takayasu arteritis (TA) is a large-vessel vasculitis that rarely presents in infancy. Casitas B-lineage lymphoma (CBL) syndrome is a rare genetic disorder due to heterozygous CBL gene germline pathogenic variants that is characterized by a predisposition to develop juvenile myelomonocytic leukemia (JMML). Vasculitis, including TA, has been reported in several patients. Herein, we describe a patient with CBL syndrome, JMML, and TA, developing long-term remission of this vasculitis after allogeneic hematopoietic stem cell transplant (HSCT), and perform a literature review of CBL syndrome with vasculitis or vasculopathy. We report a female patient with growth delay, developmental issues, and congenital heart disease who was admitted at 14 months of age with massive splenomegaly, lymphadenopathy, fever, and hypertension. Body imaging studies revealed arterial stenosis and wall inflammation of the aorta and multiple thoracic and abdominal branches. Whole exome sequencing revealed a pathogenic variant in CBL with loss of heterozygosity in blood cells, diagnosing CBL syndrome, complicated by JMML and TA. Allogeneic HSCT induced remission of JMML and TA, permitting discontinuation of immunosuppression after 12 months. Six years later, her TA is in complete remission off therapy. A literature review identified 18 additional cases of CBL syndrome with vasculitis or vasculopathy. The pathogenesis of vasculitis in CBL syndrome appears to involve dysregulated T cell function and possibly increased angiogenesis. This case advances the understanding of vascular involvement in CBL syndrome and of the genetic, immune, and vascular interplay in TA, offering insights for treating CBL syndrome and broader TA.
摘要：
Takayasu动脉炎（TA）是一种大血管血管炎，很少在婴儿期出现。CasitasB系淋巴瘤（CBL）综合征是一种罕见的遗传性疾病，由于CBL基因杂合种系致病变异，其特征是易于发展成幼年型粒单核细胞白血病（JMML）。血管炎,包括TA,已经报道了几个病人。在这里，我们描述了一个CBL综合征患者,JMML,还有TA,在异基因造血干细胞移植（HSCT）后发展这种血管炎的长期缓解，并对CBL综合征伴血管炎或血管病变进行文献综述。我们报告了一个生长迟缓的女性患者，发展问题，和先天性心脏病，在14个月大的时候因巨大的脾肿大而入院，淋巴结病，发烧,和高血压。身体影像学研究显示主动脉和多个胸腹部分支的动脉狭窄和壁炎症。全外显子组测序显示CBL中的致病性变异与血细胞中杂合性的丧失，诊断CBL综合征,由JMML和TA复杂。同种异体HSCT诱导的JMML和TA缓解，允许在12个月后停止免疫抑制。六年后,她的TA正在完全缓解。文献综述确定了另外18例CBL综合征伴血管炎或血管病变。CBL综合征中血管炎的发病机制似乎涉及T细胞功能失调和可能增加的血管生成。这个病例促进了对CBL综合征中血管受累和遗传的理解，免疫，和TA中的血管相互作用，为治疗CBL综合征和更广泛的TA提供见解。
