Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH.

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Published in Blood on August 31, 2011

Authors

Kejian Zhang1, Michael B Jordan, Rebecca A Marsh, Judith A Johnson, Diane Kissell, Jarek Meller, Joyce Villanueva, Kimberly A Risma, Qian Wei, Peter S Klein, Alexandra H Filipovich

Author Affiliations

1: Division of Human Genetics, Children's Hospital Medical Center, University of Cincinnati College of Medicie, Cincinnati, OH 45229, USA. kejian.zhang@cchmc.org

Associated clinical trials:

Pilot Study of Etoposide-based Therapy and Hematopoietic Cell Transplantation for Hemophagocytic Lymphohistiocytosis (HELA2012) | NCT01547143

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