Literature DB >> 26450956

Accuracy of flow cytometric perforin screening for detecting patients with FHL due to PRF1 mutations.

Manar Abdalgani1, Alexandra H Filipovich1, Sharon Choo2, Kejian Zhang3, Carrie Gifford1, Joyce Villanueva1, Jack J Bleesing1, Rebecca A Marsh1.   

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Year:  2015        PMID： 26450956      PMCID： PMC4828082          DOI： 10.1182/blood-2015-06-648659

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


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  7 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.  Characterisation of diverse PRF1 mutations leading to decreased natural killer cell activity in North American families with haemophagocytic lymphohistiocytosis.

Authors:  S Molleran Lee; J Villanueva; J Sumegi; K Zhang; K Kogawa; J Davis; A H Filipovich
Journal:  J Med Genet       Date:  2004-02       Impact factor: 6.318

3.  Genetic subtypes of familial hemophagocytic lymphohistiocytosis: correlations with clinical features and cytotoxic T lymphocyte/natural killer cell functions.

Authors:  Eiichi Ishii; Ikuyo Ueda; Ryutaro Shirakawa; Ken Yamamoto; Hisanori Horiuchi; Shouichi Ohga; Kenji Furuno; Akira Morimoto; Miyoko Imayoshi; Yoshiyasu Ogata; Masafumi Zaitsu; Masahiro Sako; Kenichi Koike; Akifumi Sakata; Hidetoshi Takada; Toshiro Hara; Shinsaku Imashuku; Takehiko Sasazuki; Masaki Yasukawa
Journal:  Blood       Date:  2005-01-04       Impact factor: 22.113

4.  Perforin defects of primary haemophagocytic lymphohistiocytosis in Japan.

Authors:  Naohiro Suga; Hidetoshi Takada; Akihiko Nomura; Shouichi Ohga; Eiichi Ishii; Kenji Ihara; Koichi Ohshima; Toshiro Hara
Journal:  Br J Haematol       Date:  2002-02       Impact factor: 6.998

5.  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

Review 6.  Characteristic perforin gene mutations of haemophagocytic lymphohistiocytosis patients in Japan.

Authors:  Ikuyo Ueda; Akira Morimoto; Tohru Inaba; Tomohito Yagi; Shigeyoshi Hibi; Tohru Sugimoto; Masahiro Sako; Fumio Yanai; Takashi Fukushima; Masahiko Nakayama; Eiichi Ishii; Shinsaku Imashuku
Journal:  Br J Haematol       Date:  2003-05       Impact factor: 6.998

7.  Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis.

Authors:  K Göransdotter Ericson; B Fadeel; S Nilsson-Ardnor; C Söderhäll; A Samuelsson; G Janka; M Schneider; A Gürgey; N Yalman; T Révész; R Egeler; K Jahnukainen; I Storm-Mathiesen; A Haraldsson ; J Poole; G de Saint Basile; M Nordenskjöld; J Henter
Journal:  Am J Hum Genet       Date:  2001-02-06       Impact factor: 11.025
  7 in total
  10 in total

1.  A CD57+ CTL Degranulation Assay Effectively Identifies Familial Hemophagocytic Lymphohistiocytosis Type 3 Patients.

Authors:  Masayuki Hori; Takahiro Yasumi; Saeko Shimodera; Hirofumi Shibata; Eitaro Hiejima; Hirotsugu Oda; Kazushi Izawa; Tomoki Kawai; Masataka Ishimura; Naoko Nakano; Ryutaro Shirakawa; Ryuta Nishikomori; Hidetoshi Takada; Satoshi Morita; Hisanori Horiuchi; Osamu Ohara; Eiichi Ishii; Toshio Heike
Journal:  J Clin Immunol       Date:  2016-11-28       Impact factor: 8.317

2.  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

3.  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

Review 4.  Histiocytic disorders.

Authors:  Kenneth L McClain; Camille Bigenwald; Matthew Collin; Julien Haroche; Rebecca A Marsh; Miriam Merad; Jennifer Picarsic; Karina B Ribeiro; Carl E Allen
Journal:  Nat Rev Dis Primers       Date:  2021-10-07       Impact factor: 65.038

Review 5.  Epstein-Barr Virus and Hemophagocytic Lymphohistiocytosis.

Authors:  Rebecca A Marsh
Journal:  Front Immunol       Date:  2018-01-08       Impact factor: 7.561

Review 6.  Application of Flow Cytometry in Primary Immunodeficiencies: Experience From India.

Authors:  Manisha Rajan Madkaikar; Snehal Shabrish; Manasi Kulkarni; Jahnavi Aluri; Aparna Dalvi; Madhura Kelkar; Maya Gupta
Journal:  Front Immunol       Date:  2019-06-11       Impact factor: 7.561

Review 7.  Current Flow Cytometric Assays for the Screening and Diagnosis of Primary HLH.

Authors:  Samuel Cern Cher Chiang; Jack J Bleesing; Rebecca A Marsh
Journal:  Front Immunol       Date:  2019-07-23       Impact factor: 7.561

8.  The Spectrum of Clinical, Immunological, and Molecular Findings in Familial Hemophagocytic Lymphohistiocytosis: Experience From India.

Authors:  Snehal Shabrish; Madhura Kelkar; Reetika Malik Yadav; Umair Ahmed Bargir; Maya Gupta; Aparna Dalvi; Jahnavi Aluri; Manasi Kulkarni; Shweta Shinde; Sneha Sawant-Desai; Priyanka Kambli; Gouri Hule; Priyanka Setia; Neha Jodhawat; Pallavi Gaikwad; Amruta Dhawale; Nayana Nambiar; Vijaya Gowri; Ambreen Pandrowala; Prasad Taur; Revathi Raj; Ramya Uppuluri; Ratna Sharma; Pranoti Kini; Meena Sivasankaran; Deenadayalan Munirathnam; Ramprasad Vedam; Pandiarajan Vignesh; Aaqib Banday; Amit Rawat; Amita Aggarwal; Ujjal Poddar; Meenakshi Girish; Abhijit Chaudhary; Abhilasha Sampagar; Dharani Jayaraman; Narendra Chaudhary; Nitin Shah; Farah Jijina; S Chandrakla; Swati Kanakia; Brijesh Arora; Santanu Sen; Madhukar Lokeshwar; Mukesh Desai; Manisha Madkaikar
Journal:  Front Immunol       Date:  2021-03-05       Impact factor: 7.561

Review 9.  Clinical Management of Relapsed/Refractory Hemophagocytic Lymphohistiocytosis in Adult Patients: A Review of Current Strategies and Emerging Therapies.

Authors:  Halil Yildiz; Sarah Bailly; Eric Van Den Neste; Jean Cyr Yombi
Journal:  Ther Clin Risk Manag       Date:  2021-04-14       Impact factor: 2.423

10.  RF1 Gene Mutation in Familial Hemophagocytic Lymphohistiocytosis 2: A Family Report and Literature Review.

Authors:  Yuan Shi; Zhidong Qiao; Xiaoduo Bi; Chenxin Zhang; Junxian Fu; Yuexin Jia; Guanglu Yang
Journal:  Pharmgenomics Pers Med       Date:  2021-12-16
  10 in total

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