Hemophagocytic lymphohistiocytosis caused by dominant-negative mutations in STXBP2 that inhibit SNARE-mediated membrane fusion.

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Published in Blood on January 06, 2015

Authors

Waldo A Spessott1, Maria L Sanmillan1, Margaret E McCormick1, Nishant Patel2, Joyce Villanueva3, Kejian Zhang4, Kim E Nichols5, Claudio G Giraudo1

Author Affiliations

1: Department of Pathology and Laboratory Medicine, and.
2: Division of Oncology, Department of Pediatrics, The Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA;
3: Division of Bone Marrow Transplant and Immune Deficiency, and.
4: Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH; and.
5: Division of Cancer Predisposition, Department of Oncology, St. Jude Children's Research Hospital, Memphis, TN.

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