Adult onset and atypical presentation of hemophagocytic lymphohistiocytosis in siblings carryingPRF1 mutations
Author:
Affiliation:
1. Oncoematologia Pediatrica, Ospedale dei Bambini “G. Di Cristina,” Palermo, Italy
Publisher
American Society of Hematology
Subject
Cell Biology,Hematology,Immunology,Biochemistry
Link
http://ashpublications.org/blood/article-pdf/100/6/2266/1255781/h81802002266a.pdf
Reference11 articles.
1. Hemophagocytic lymphohistiocytosis: report of 122 children from the International Registry. FHL Study Group of the Histiocyte Society.;Aricò;Leukemia.,1996
2. Diagnostic guidelines for hemophagocytic lymphohistiocytosis.;Henter;Semin Oncol.,1991
3. Perforin gene defects in familial hemophagocytic lymphohistiocytosis.;Stepp;Science.,1999
4. Six novel mutations of the perforin gene in children with hemophagocytic lymphohistiocytosis.;Clementi;J Med Genet.,2001
5. Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis.;Goransdotter;Am J Hum Genet.,2001
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