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Hemophagocytic lymphohistiocytosis in a female patient due to a heterozygous XIAP mutation and skewed X chromosome inactivation
Authors:Jennifer R Holle MS  Rebecca A Marsh MD  Anna Maria Holdcroft MS  Stella M Davies MBBS  PhD  Lijun Wang MD  PhD  Kejian Zhang MD  MBA  Michael B Jordan MD
Institution:1. Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio;2. Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio;3. Division of Immunobiology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio
Abstract:
Keywords:hemophagocytic lymphohistiocytosis  X‐linked inhibitor of apoptosis  X‐linked lymphoproliferative disease  skewed X chromosome inactivation
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