Literature DB >> 20378576

Molecular basis of familial hemophagocytic lymphohistiocytosis.

Valentina Cetica, Daniela Pende, Gillian M Griffiths, Maurizio Aricò.   

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Year:  2010        PMID： 20378576      PMCID： PMC2857182          DOI： 10.3324/haematol.2009.019562

Source DB:  PubMed          Journal:  Haematologica        ISSN： 0390-6078            Impact factor:   9.941


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  28 in total

1.  Perforin expression in cytotoxic lymphocytes from patients with hemophagocytic lymphohistiocytosis and their family members.

Authors:  Kazuhiro Kogawa; Susan M Lee; Joyce Villanueva; Daniel Marmer; Janos Sumegi; Alexandra H Filipovich
Journal:  Blood       Date:  2002-01-01       Impact factor: 22.113

2.  Haemophagocytic lymphohistiocytosis: proposal of a diagnostic algorithm based on perforin expression.

Authors:  Maurizio Aricò; Michaela Allen; Simona Brusa; Rita Clementi; Daniela Pende; Rita Maccario; Lorenzo Moretta; Cesare Danesino
Journal:  Br J Haematol       Date:  2002-10       Impact factor: 6.998

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

Authors:  Rita Clementi; Lorenzo Emmi; Rita Maccario; Francesco Liotta; Lorenzo Moretta; Cesare Danesino; Maurizio Aricó
Journal:  Blood       Date:  2002-09-15       Impact factor: 22.113

4.  Perforin gene defects in familial hemophagocytic lymphohistiocytosis.

Authors:  S E Stepp; R Dufourcq-Lagelouse; F Le Deist; S Bhawan; S Certain; P A Mathew; J I Henter; M Bennett; A Fischer; G de Saint Basile; V Kumar
Journal:  Science       Date:  1999-12-03       Impact factor: 47.728

5.  Treatment of hemophagocytic lymphohistiocytosis with HLH-94 immunochemotherapy and bone marrow transplantation.

Authors:  Jan-Inge Henter; AnnaCarin Samuelsson-Horne; Maurizio Aricò; R Maarten Egeler; Göran Elinder; Alexandra H Filipovich; Helmut Gadner; Shinsaku Imashuku; Diane Komp; Stephan Ladisch; David Webb; Gritta Janka
Journal:  Blood       Date:  2002-10-01       Impact factor: 22.113

6.  Impaired natural killer activity in lymphohistiocytosis syndrome.

Authors:  N Perez; J L Virelizier; F Arenzana-Seisdedos; A Fischer; C Griscelli
Journal:  J Pediatr       Date:  1984-04       Impact factor: 4.406

7.  Hemophagocytic lymphohistiocytosis. Report of 122 children from the International Registry. FHL Study Group of the Histiocyte Society.

Authors:  M Aricò; G Janka; A Fischer; J I Henter; S Blanche; G Elinder; M Martinetti; M P Rusca
Journal:  Leukemia       Date:  1996-02       Impact factor: 11.528

8.  Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3).

Authors:  Jérôme Feldmann; Isabelle Callebaut; Graça Raposo; Stéphanie Certain; Delphine Bacq; Cécile Dumont; Nathalie Lambert; Marie Ouachée-Chardin; Gaëlle Chedeville; Hannah Tamary; Véronique Minard-Colin; Etienne Vilmer; Stéphane Blanche; Françoise Le Deist; Alain Fischer; Geneviève de Saint Basile
Journal:  Cell       Date:  2003-11-14       Impact factor: 41.582

9.  Six novel mutations in the PRF1 gene in children with haemophagocytic lymphohistiocytosis.

Authors:  R Clementi; U zur Stadt; G Savoldi; S Varoitto; V Conter; C De Fusco; L D Notarangelo; M Schneider; C Klersy; G Janka; C Danesino; M Aricò
Journal:  J Med Genet       Date:  2001-09       Impact factor: 6.318

Review 10.  Pathogenesis of haemophagocytic lymphohistiocytosis.

Authors:  M Aricò; C Danesino; D Pende; L Moretta
Journal:  Br J Haematol       Date:  2001-09       Impact factor: 6.998
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  27 in total

1.  Hemophagocytic syndrome with atypical presentation in an adolescent.

Authors:  Marta Valente Pinto; Isabel Esteves; Yenan Bryceson; Anabela Ferrão
Journal:  BMJ Case Rep       Date:  2013-09-11

Review 2.  Haemophagocytic lymphohistiocytosis: an elusive syndrome.

Authors:  William Thomas; Mars Van't Veer; Martin Besser
Journal:  Clin Med (Lond)       Date:  2016-10       Impact factor: 2.659

3.  Structural and functional analysis of perforin mutations in association with clinical data of familial hemophagocytic lymphohistiocytosis type 2 (FHL2) patients.

Authors:  Omer An; Attila Gursoy; Aytemiz Gurgey; Ozlem Keskin
Journal:  Protein Sci       Date:  2013-06       Impact factor: 6.725

4.  Familial hemophagocytic lymphohistiocytosis in two Saudi siblings.

Authors:  Abdelakarim Ibrahim Abbaker; Ali Saeed Dammas
Journal:  Sudan J Paediatr       Date:  2015

5.  Perforin and CD107a testing is superior to NK cell function testing for screening patients for genetic HLH.

Authors:  Tamar S Rubin; Kejian Zhang; Carrie Gifford; Adam Lane; Sharon Choo; Jack J Bleesing; Rebecca A Marsh
Journal:  Blood       Date:  2017-03-07       Impact factor: 22.113

6.  Effective Immunological Guidance of Genetic Analyses Including Exome Sequencing in Patients Evaluated for Hemophagocytic Lymphohistiocytosis.

Authors:  Sandra Ammann; Kai Lehmberg; Udo Zur Stadt; Christian Klemann; Sebastian F N Bode; Carsten Speckmann; Gritta Janka; Katharina Wustrau; Mirzokhid Rakhmanov; Ilka Fuchs; Hans C Hennies; Stephan Ehl
Journal:  J Clin Immunol       Date:  2017-09-21       Impact factor: 8.317

7.  Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases.

Authors:  Jan Rohr; Karin Beutel; Andrea Maul-Pavicic; Thomas Vraetz; Jens Thiel; Klaus Warnatz; Ilka Bondzio; Ute Gross-Wieltsch; Michael Schündeln; Barbara Schütz; Wilhelm Woessmann; Andreas H Groll; Brigitte Strahm; Julia Pagel; Carsten Speckmann; Gritta Janka; Gillian Griffiths; Klaus Schwarz; Udo zur Stadt; Stephan Ehl
Journal:  Haematologica       Date:  2010-09-07       Impact factor: 9.941

8.  Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3.

Authors:  Elena Sieni; Valentina Cetica; Alessandra Santoro; Karin Beutel; Elena Mastrodicasa; Marie Meeths; Benedetta Ciambotti; Francesca Brugnolo; Udo zur Stadt; Daniela Pende; Lorenzo Moretta; Gillian M Griffiths; Jan-Inge Henter; Gritta Janka; Maurizio Aricò
Journal:  J Med Genet       Date:  2011-01-19       Impact factor: 6.318

9.  Hemophagocytic syndrome following haploidentical peripheral blood stem cell transplantation with post-transplant cyclophosphamide.

Authors:  Sarita Rani Jaiswal; Aditi Chakrabarti; Sumita Chatterjee; Sneh Bhargava; Kunal Ray; Suparno Chakrabarti
Journal:  Int J Hematol       Date:  2015-11-30       Impact factor: 2.490

10.  Munc18b/STXBP2 is required for platelet secretion.

Authors:  Rania Al Hawas; Qiansheng Ren; Shaojing Ye; Zubair A Karim; Alexandra H Filipovich; Sidney W Whiteheart
Journal:  Blood       Date:  2012-07-12       Impact factor: 22.113
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