Adult onset and atypical presentation of hemophagocytic lymphohistiocytosis in siblings carryingPRF1 mutations

Author:

Clementi Rita,Emmi Lorenzo,Maccario Rita,Liotta Francesco,Moretta Lorenzo,Danesino Cesare,Aricò Maurizio1

Affiliation:

1. Oncoematologia Pediatrica, Ospedale dei Bambini “G. Di Cristina,” Palermo, Italy

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

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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