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Familial hemophagocytic lymphohistiocytosis and X-linked lymphoproliferative disease

Authors

  • Rebecca A. Marsh,

    1. Division of Bone Marrow Transplantation and Immune Deficiency, Cancer and Blood Diseases Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio
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  • Alexandra H. Filipovich

    1. Division of Bone Marrow Transplantation and Immune Deficiency, Cancer and Blood Diseases Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio
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Errata

This article is corrected by:

  1. Errata: Corrigendum for Ann. N.Y. Acad. Sci. 1238: 106–121 Volume 1246, 141, Article first published online: December 2011

  • Preferred citation: Marsh, R.A. & A.H. Filipovich. 2011. Familial hemophagocytic lymphohistiocytosis and X-linked lymphoproliferative disease. In “The Year in Human and Medical Genetics: Inborn Errors of Immunity I.” Jean-Laurent Casanova, Mary Ellen Conley & Luigi Notarangelo, Eds. Ann. N.Y. Acad. Sci.1238: 106–121.

Rebecca A. Marsh, Division of Bone Marrow Transplantation and Immune Deficiency, Cancer and Blood Diseases Institute, Cincinnati Children's Hospital Medical Center, 3333 Burnet Ave. Cincinnati, OH 45229. Rebecca.Marsh@cchmc.org

Abstract

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.

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