Abstract

患儿8月龄起病以脾脏、淋巴结和腮腺肿大为突出表现,伴反复发热、窦肺感染、贫血和血小板减少,外周血多克隆性B细胞增殖。基因检出半胱天冬酶募集结构域11基因第5外显子新发杂合变异(c.368C>T,p.G123D),父母为野生型,诊断NF-κB相关B细胞增殖和T细胞失能性疾病。经10年利妥昔单抗治疗,淋巴增殖控制良好。.

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