Literature DB >> 12229880

Adult onset and atypical presentation of hemophagocytic lymphohistiocytosis in siblings carrying PRF1 mutations.

Rita Clementi, Lorenzo Emmi, Rita Maccario, Francesco Liotta, Lorenzo Moretta, Cesare Danesino, Maurizio Aricó.   

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Year:  2002        PMID： 12229880     DOI： 10.1182/blood-2002-04-1030

Source DB:  PubMed          Journal:  Blood        ISSN： 0006-4971            Impact factor:   22.113


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  43 in total

1.  Molecular basis of familial hemophagocytic lymphohistiocytosis.

Authors:  Valentina Cetica; Daniela Pende; Gillian M Griffiths; Maurizio Aricò
Journal:  Haematologica       Date:  2010-04       Impact factor: 9.941

2.  Aberrant maturation of mutant perforin underlies the clinical diversity of hemophagocytic lymphohistiocytosis.

Authors:  Kimberly A Risma; Robert W Frayer; Alexandra H Filipovich; Janos Sumegi
Journal:  J Clin Invest       Date:  2005-12-22       Impact factor: 14.808

3.  Perforin polymorphism A91V and susceptibility to B-precursor childhood acute lymphoblastic leukemia: a report from the Children's Oncology Group.

Authors:  P A Mehta; S M Davies; A Kumar; M Devidas; S Lee; T Zamzow; J Elliott; J Villanueva; J Pullen; Y Zewge; A Filipovich
Journal:  Leukemia       Date:  2006-06-22       Impact factor: 11.528

4.  Previously undiagnosed fatal familial haemophagocytic lymphohistiocytosis in a 24-year-old woman.

Authors:  Sara Barmettler; Richard J Nowak; Terri Parker; Christina Price
Journal:  BMJ Case Rep       Date:  2016-02-22

5.  Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH.

Authors:  Kejian Zhang; Michael B Jordan; Rebecca A Marsh; Judith A Johnson; Diane Kissell; Jarek Meller; Joyce Villanueva; Kimberly A Risma; Qian Wei; Peter S Klein; Alexandra H Filipovich
Journal:  Blood       Date:  2011-08-31       Impact factor: 22.113

Review 6.  Perforin and granzymes: function, dysfunction and human pathology.

Authors:  Ilia Voskoboinik; James C Whisstock; Joseph A Trapani
Journal:  Nat Rev Immunol       Date:  2015-06       Impact factor: 53.106

7.  A novel pathogenic variant in PRF1 associated with hemophagocytic lymphohistiocytosis.

Authors:  Camilo Andrés Pérez Romero; Isaura Pilar Sánchez; Sebastian Gutierrez-Hincapié; Jesús A Álvarez-Álvarez; Jaime Andres Pereañez; Rodrigo Ochoa; Carlos Enrique Muskus-López; Ruth G Eraso; Carolina Echeverry; Catalina Arango; José Luis Franco Restrepo; Claudia Milena Trujillo-Vargas
Journal:  J Clin Immunol       Date:  2015-05-15       Impact factor: 8.317

8.  Analyses of the PRF1 gene in individuals with hemophagocytic lymphohystiocytosis reveal the common haplotype R54C/A91V in Colombian unrelated families associated with late onset disease.

Authors:  Isaura P Sánchez; Lucía C Leal-Esteban; Jesús A Álvarez-Álvarez; Camilo A Pérez-Romero; Julio C Orrego; Malyive L Serna; Yadira Coll; Yolanda Caicedo; Edwin Pardo-Díaz; Jacques Zimmer; Jack J Bleesing; José L Franco; Claudia M Trujillo-Vargas
Journal:  J Clin Immunol       Date:  2012-03-22       Impact factor: 8.317

Review 9.  How I treat hemophagocytic lymphohistiocytosis.

Authors:  Michael B Jordan; Carl E Allen; Sheila Weitzman; Alexandra H Filipovich; Kenneth L McClain
Journal:  Blood       Date:  2011-08-09       Impact factor: 22.113

10.  Fulminant hemophagocytic syndrome with a high interferon gamma level diagnosed as macrophage activation syndrome.

Authors:  Tsuyoshi Muta; Yujiro Yamano
Journal:  Int J Hematol       Date:  2004-06       Impact factor: 2.490
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