机译:新型NLRC4突变导致血管活性淋巴管激菌,肝肺肿大,胎儿血栓性血管病变和先天性贫血和腹水的围产期自身炎症综合征
Department of Pathology Children’s Hospital of Pittsburgh of UPMC University of Pittsburgh School;
Department of Pediatrics Children's Hospital of Pittsburgh of UPMC Pennsylvania;
Department of Pediatrics Children's Hospital of Pittsburgh of UPMC Pennsylvania;
Department of Pediatrics Children's Hospital of Pittsburgh of UPMC Pennsylvania;
Department of Pathology Dartmouth-Hitchcock Medical Center New Hampshire;
University of Pittsburgh School of Medicine Pennsylvania;
Department of Pediatrics—Medical Genetics Children’s Hospital of Pittsburgh of UPMC University of;
Department of Pediatrics—Medical Genetics Children’s Hospital of Pittsburgh of UPMC University of;
Department of Pediatrics—Medical Genetics Children’s Hospital of Pittsburgh of UPMC University of;
Department of Pathology Children’s Hospital of Pittsburgh of UPMC University of Pittsburgh School;
autoinflammation; hemophagocytic lymphohistiocytosis; fetal thrombotic vasculopathy; NLRC4; inflammasome; congenital anemia; congenital ascites; prematurity; hepatosplenomegaly; macrophage activation;
机译:新型NLRC4突变导致血管活性淋巴管激菌,肝肺肿大,胎儿血栓性血管病变和先天性贫血和腹水的围产期自身炎症综合征
机译:抗γ干扰素(IFNγ)单克隆抗体在患有NLRC4突变和严重吞噬性淋巴细胞组织细胞增生症的患者中的治疗
机译:激活的NLRC4炎性体突变导致自发炎症并伴有巨噬细胞激活综合征
机译:表现为综合征性免疫缺陷自发炎症噬血细胞性淋巴组织细胞增生和恶性肿瘤的11岁大儿童的新型CDC42突变:一例报告
机译:一个新的CDC42突变,表现为综合征免疫缺陷,自身炎症,血小杂性淋巴管症和恶性肿瘤和恶性肿瘤:案例报告