两名患有X连锁无丙种球蛋白血症的兄弟患家族性噬血细胞性淋巴组织细胞增生症。
Familial hemophagocytic lymphohistiocytosis in two brothers with X-linked agammaglobulinemia.
作者信息
Schultz Kris Ann P, Neglia Joseph P, Smith Angela R, Ochs Hans D, Torgerson Troy R, Kumar Ashish
机构信息
Division of Hematology/Oncology and Blood and Marrow Transplantation, Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota, USA.
出版信息
Pediatr Blood Cancer. 2008 Aug;51(2):293-5. doi: 10.1002/pbc.21573.
Hemophagocytic lymphohistiocytosis (HLH) is often familial and is associated with high mortality. Primary (familial) HLH is known to occur in children with mutations in perforin, Munc13-4, or syntaxin 11. We describe a case series of two brothers who developed HLH in the setting of X-linked agammaglobulinemia (XLA, Bruton's disease) and adenovirus infection. Further studies revealed absence of Bruton's tyrosine kinase (BTK) protein expression and a novel BTK mutation.
噬血细胞性淋巴组织细胞增生症（HLH）通常具有家族性，且死亡率高。已知原发性（家族性）HLH发生于穿孔素、Munc13-4或 syntaxin 11 发生突变的儿童。我们描述了一个病例系列，两名患有X连锁无丙种球蛋白血症（XLA，布鲁顿病）和腺病毒感染的兄弟发生了HLH。进一步研究发现布鲁顿酪氨酸激酶（BTK）蛋白表达缺失以及一种新的BTK突变。
Zotero 插件