Literature DB >> 15921391

A single amino acid change A91V in perforin: a novel, frequent predisposing factor to childhood acute lymphoblastic leukemia?

Alessandra Santoro, Sonia Cannella, Antonino Trizzino, Luca Lo Nigro, Giovanni Corsello, Maurizio Aricò.   

Abstract

We screened 100 children with acute lymphoblastic leukemia (ALL) to assess the incidence of single amino acid change A91V in perforin. Heterozygous A91V was found in 12/100 patients and 5/127 controls (OR, 3.4; 95%CI: 1.15-9.95; p=0.014). A91V is a novel and frequent predisposing factor for childhood ALL.

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Year:  2005        PMID： 15921391

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


  17 in total

1.  Consensus recommendations for the diagnosis and management of hemophagocytic lymphohistiocytosis associated with malignancies.

Authors:  Kai Lehmberg; Kim E Nichols; Jan-Inge Henter; Michael Girschikofsky; Tatiana Greenwood; Michael Jordan; Ashish Kumar; Milen Minkov; Paul La Rosée; Sheila Weitzman
Journal:  Haematologica       Date:  2015-08       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.  Cytophagic histiocytic panniculitis with fatal haemophagocytic lymphohistiocytosis in a paediatric patient with perforin gene mutation.

Authors:  Rong-Long Chen; Yung-Hsiang Hsu; Ikuyo Ueda; Shinsaku Imashuku; Kengo Takeuchi; Benjamin Pang-hsien Tu; Shih-Sung Chuang
Journal:  J Clin Pathol       Date:  2007-06-29       Impact factor: 3.411

5.  Functional assessment of perforin C2 domain mutations illustrates the critical role for calcium-dependent lipid binding in perforin cytotoxic function.

Authors:  Ramon Urrea Moreno; Juana Gil; Carmen Rodriguez-Sainz; Elena Cela; Victor LaFay; Brian Oloizia; Andrew B Herr; Janos Sumegi; Michael B Jordan; Kimberly A Risma
Journal:  Blood       Date:  2008-10-16       Impact factor: 22.113

6.  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 7.  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

Review 8.  Familial haemophagocytic lymphohistiocytosis: advances in the genetic basis, diagnosis and management.

Authors:  C Gholam; S Grigoriadou; K C Gilmour; H B Gaspar
Journal:  Clin Exp Immunol       Date:  2011-03       Impact factor: 4.330

9.  Heterozygosity for the common perforin mutation, p.A91V, impairs the cytotoxicity of primary natural killer cells from healthy individuals.

Authors:  Imran G House; Kevin Thia; Amelia J Brennan; Richard Tothill; Alexander Dobrovic; Wei Z Yeh; Richard Saffery; Zac Chatterton; Joseph A Trapani; Ilia Voskoboinik
Journal:  Immunol Cell Biol       Date:  2015-03-17       Impact factor: 5.126

10.  Temperature sensitivity of human perforin mutants unmasks subtotal loss of cytotoxicity, delayed FHL, and a predisposition to cancer.

Authors:  Jenny Chia; Kim Pin Yeo; James C Whisstock; Michelle A Dunstone; Joseph A Trapani; Ilia Voskoboinik
Journal:  Proc Natl Acad Sci U S A       Date:  2009-06-01       Impact factor: 11.205
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