Division of Bone Marrow Transplantation and Immune Deficiency, Cancer and Blood Diseases Institute, Cincinnati Children's Hospital Medical Center, Ohio 45229, USA.
Ann N Y Acad Sci. 2011 Nov;1238:106-21. doi: 10.1111/j.1749-6632.2011.06265.x.
Familial hemophagocytic lymphohistiocytosis and X-linked lymphoproliferative disease are rare, fatal, inherited immune deficiency disorders. Both diagnoses are used to describe patients who are affected by several known or presumed genetic mutations that, in common, predispose patients to the development of hemophagocytic lymphohistiocytosis. Many pivotal advances have been made in recent years with regard to our understanding and treatment of these diseases. Here, we will describe the genetic and functional bases of these diseases, highlight their clinical manifestations, and discuss current diagnostic and therapeutic strategies.
家族性噬血细胞性淋巴组织细胞增生症和 X 连锁淋巴组织增生性疾病是罕见的、致命的遗传性免疫缺陷疾病。这两种诊断都用于描述受几种已知或假定的遗传突变影响的患者，这些突变通常使患者易发生噬血细胞性淋巴组织细胞增生症。近年来，我们在这些疾病的理解和治疗方面取得了许多重大进展。在这里，我们将描述这些疾病的遗传和功能基础，强调其临床表现，并讨论当前的诊断和治疗策略。
