Article
Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH.
Blood - 24 Nov 2011
Zhang Kejian, Jordan Michael B, Marsh Rebecca A, Johnson Judith A, Kissell Diane, Meller Jarek, Villanueva Joyce, Risma Kimberly A, Wei Qian, Klein Peter S, Filipovich Alexandra H
Abstract excerpt
Familial hemophagocytic lymphohistiocytosis (HLH) is a rare primary immunodeficiency disorder characterized by defects in cell-mediated cytotoxicity that results in fever, hepatosplenomegaly, and cytopenias. Familial HLH is well recognized in children but rarely diagnosed in adults. We conducted a retrospective review of genetic and immunologic test results in patients who developed HLH in adulthood. Included in...
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