Abstract：
Multiple myeloma is a rare disease in pediatrics, where about 30 cases are described under 15 years old. It is even rarer when atypical multiple myeloma occurs in the context of autoimmunity. This case describes a 9-year-old female with autoimmune lymphoproliferative-like disease and combined immune deficiency that developed acute kidney failure with monoclonal peak associated with RAC2 and TNFRSF9 variants. An adapted protocol from the backbone adult multiple myeloma standard of care with the addition of an allogeneic hematopoietic stem cell transplant was used. The patient, now nearly a year posttransplant, shows 100% chimerism with no sign of relapse.
摘要：
多发性骨髓瘤是儿科的一种罕见疾病，其中约30例描述为15岁以下。当非典型多发性骨髓瘤在自身免疫的背景下发生时，这种情况甚至更罕见。该病例描述了一名9岁女性，患有自身免疫性淋巴增生样疾病和联合免疫缺陷，导致急性肾衰竭，其单克隆峰与RAC2和TNFRSF9变体相关。使用了来自骨干成人多发性骨髓瘤标准护理的改编方案，其中添加了同种异体造血干细胞移植。病人,现在移植后将近一年，显示100%嵌合,没有复发的迹象。
