title: Familial Hemophagocytic Lymphohistiocytosis.
abstract: Familial hemophagocytic lymphohistiocytosis (FHL) is a rare heritable disorder of immune regulation that is typically characterized by sudden onset of severe systemic illness. Functional impairment or absence of 1 or more of several proteins that participate in lymphocyte cytotoxicity underlies the disease. Although FHL usually presents in infancy, age of onset is variable and dependent on genetic and environmental factors. Initial treatment consists of immune suppression, whereas definitive treatment requires hematopoietic cell transplantation.
authors.affiliation: Harvard Medical School, Harvard University, 25 Shattuck st., Boston, MA 02115, USA; Pediatric Oncology, Dana-Farber/Boston Children's Cancer and Blood Disorders Center, 450 Brookline Avenue, Boston, MA 02215, USA. Electronic address: barbara_degar@dfci.harvard.edu.
authors.forename: Barbara
authors.initials: B
authors.lastname: Degar
mesh_terms: D000818:Animals; D003131:Combined Modality Therapy; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D006801:Humans; D015994:Incidence; D051359:Lymphohistiocytosis, Hemophagocytic / Q000175:diagnosis* / Q000453:epidemiology / Q000209:etiology* / Q000628:therapy*; D016896:Treatment Outcome
keywords: FHL; Familial hemophagocytic lymphohistiocytosis; HLH; Hemophagocytic lymphohistiocytosis; Perforin; XLP