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   PRF1base
   Variation registry for  Familial haemophagocytic lymphohistiocytosis, type II (FHL2)


PRF1base mutation publications

[2010] [2009] [2008] [2007] [2006] [2005] [2004] [2003] [2002] [2001] [1999] [1995] [ ]

Search PubMed latest citations for PRF1 mutations

    2010

  • UNC13D is the predominant causative gene with recurrent splicing mutations in Korean patients with familial hemophagocytic lymphohistiocytosis.
    Yoon HS, Kim HJ, Yoo KH, Sung KW, Koo HH, Kang HJ, Shin HY, Ahn HS, Kim JY, Lim YT, Bae KW, Lee KO, Shin JS, Lee ST, Chung HS, Kim SH, Park CJ, Chi HS, Im HJ, Seo JJ
    Haematologica 2010(4): 622-6 [PubMed abstract].

    2009

  • Mutations in the perforin gene in children with hemophagocytic lymphohistiocytosis.
    Lu G, Xie ZD, Shen KL, Ye LJ, Wu RH, Liu CY, Jin YK, Yang S
    Chin Med J (Engl) 2009(23): 2851-5 [PubMed abstract].

  • Severe course of community-acquired pneumonia in an adult patient who is heterozygous for Q481P in the perforin gene: are carriers of the mutation free of risk?
    García-Astudillo LA, Fontalba A, Mazorra F, Marín MJ, Castellanos A, Fernández S, Tejido R, López-Hoyos M
    J Investig Allergol Clin Immunol 2009(4): 311-6 [PubMed abstract].

    2008

  • Variations of the perforin gene in patients with type 1 diabetes.
    Orilieri E, Cappellano G, Clementi R, Cometa A, Ferretti M, Cerutti E, Cadario F, Martinetti M, Larizza D, Calcaterra V, D'Annunzio G, Lorini R, Cerutti F, Bruno G, Chiocchetti A, Dianzani U
    Diabetes 2008(4): 1078-83 [PubMed abstract].

  • Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations.
    Trizzino A, zur Stadt U, Ueda I, Risma K, Janka G, Ishii E, Beutel K, Sumegi J, Cannella S, Pende D, Mian A, Henter JI, Griffiths G, Santoro A, Filipovich A, Aricò M,
    J Med Genet 2008(1): 15-21 [PubMed abstract].

  • Clinical and molecular aspects of Turkish familial hemophagocytic lymphohistiocytosis patients with perforin mutations.
    Okur H, Balta G, Akarsu N, Oner A, Patiroglu T, Bay A, Sayli T, Unal S, Gurgey A
    Leuk Res 2008(6): 972-5 [PubMed abstract].

    2007

  • Defective cytotoxic lymphocyte degranulation in syntaxin-11 deficient familial hemophagocytic lymphohistiocytosis 4 (FHL4) patients.
    Bryceson YT, Rudd E, Zheng C, Edner J, Ma D, Wood SM, Bechensteen AG, Boelens JJ, Celkan T, Farah RA, Hultenby K, Winiarski J, Roche PA, Nordenskjöld M, Henter JI, Long EO, Ljunggren HG
    Blood 2007(6): 1906-15 [PubMed abstract].

  • Perforin gene mutations in adult-onset hemophagocytic lymphohistiocytosis.
    Nagafuji K, Nonami A, Kumano T, Kikushige Y, Yoshimoto G, Takenaka K, Shimoda K, Ohga S, Yasukawa M, Horiuchi H, Ishii E, Harada M
    Haematologica 2007(7): 978-81 [PubMed abstract].

  • Germline mutations of the perforin gene are a frequent occurrence in childhood anaplastic large cell lymphoma.
    Cannella S, Santoro A, Bruno G, Pillon M, Mussolin L, Mangili G, Rosolen A, Aricò M
    Cancer 2007(12): 2566-71 [PubMed abstract].

  • Perforin gene mutations in patients with acquired aplastic anemia.
    Solomou EE, Gibellini F, Stewart B, Malide D, Berg M, Visconte V, Green S, Childs R, Chanock SJ, Young NS
    Blood 2007(12): 5234-7 [PubMed abstract].

    2006

  • Familial hemophagocytic lymphohistiocytosis in an adult patient homozygous for A91V in the perforin gene, with tuberculosis infection.
    Mancebo E, Allende LM, Guzmán M, Paz-Artal E, Gil J, Urrea-Moreno R, Fernández-Cruz E, Gayà A, Calvo J, Arbós A, Durán MA, Canet R, Balanzat J, Udina MA, Vercher FJ
    Haematologica 2006(9): 1257-60 [PubMed abstract].

  • Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A.
    Zur Stadt U, Beutel K, Kolberg S, Schneppenheim R, Kabisch H, Janka G, Hennies HC
    Hum Mutat 2006(1): 62-8 [PubMed abstract].

  • Aberrant maturation of mutant perforin underlies the clinical diversity of hemophagocytic lymphohistiocytosis.
    Risma KA, Frayer RW, Filipovich AH, Sumegi J
    J Clin Invest 2006(1): 182-92 [PubMed abstract].

    2005

  • A proportion of patients with lymphoma may harbor mutations of the perforin gene.
    Clementi R, Locatelli F, Dupré L, Garaventa A, Emmi L, Bregni M, Cefalo G, Moretta A, Danesino C, Comis M, Pession A, Ramenghi U, Maccario R, Aricò M, Roncarolo MG
    Blood 2005(11): 4424-8 [PubMed abstract].

  • A single amino acid change, A91V, leads to conformational changes that can impair processing to the active form of perforin.
    Trambas C, Gallo F, Pende D, Marcenaro S, Moretta L, De Fusco C, Santoro A, Notarangelo L, Arico M, Griffiths GM
    Blood 2005(3): 932-7 [PubMed abstract].

  • An inframe perforin gene deletion in familial hemophagocytic lymphohistiocytosis is associated with perforin expression.
    Muralitharan S, Al Lamki Z, Dennison D, Christie BS, Wali YA, Zachariah M, Romana M, Bayoumi R, Krishnamoorthy R
    Am J Hematol 2005(1): 59-63 [PubMed abstract].

  • Genetic subtypes of familial hemophagocytic lymphohistiocytosis: correlations with clinical features and cytotoxic T lymphocyte/natural killer cell functions.
    Ishii E, Ueda I, Shirakawa R, Yamamoto K, Horiuchi H, Ohga S, Furuno K, Morimoto A, Imayoshi M, Ogata Y, Zaitsu M, Sako M, Koike K, Sakata A, Takada H, Hara T, Imashuku S, Sasazuki T, Yasukawa M
    Blood 2005(9): 3442-8 [PubMed abstract].

  • Severe and progressive encephalitis as a presenting manifestation of a novel missense perforin mutation and impaired cytolytic activity.
    Feldmann J, Ménasché G, Callebaut I, Minard-Colin V, Bader-Meunier B, Le Clainche L, Fischer A, Le Deist F, Tardieu M, de Saint Basile G
    Blood 2005(7): 2658-63 [PubMed abstract].

    2004

  • Atypical features of familial hemophagocytic lymphohistiocytosis.
    Busiello R, Adriani M, Locatelli F, Galgani M, Fimiani G, Clementi R, Ursini MV, Racioppi L, Pignata C
    Blood 2004(12): 4610-2 [PubMed abstract].

  • Characterisation of diverse PRF1 mutations leading to decreased natural killer cell activity in North American families with haemophagocytic lymphohistiocytosis.
    Molleran Lee S, Villanueva J, Sumegi J, Zhang K, Kogawa K, Davis J, Filipovich AH
    J Med Genet 2004(2): 137-44 [PubMed abstract].

  • Inherited perforin and Fas mutations in a patient with autoimmune lymphoproliferative syndrome and lymphoma.
    Clementi R, Dagna L, Dianzani U, Dupré L, Dianzani I, Ponzoni M, Cometa A, Chiocchetti A, Sabbadini MG, Rugarli C, Ciceri F, Maccario R, Locatelli F, Danesino C, Ferrarini M, Bregni M
    N Engl J Med 2004(14): 1419-24 [PubMed abstract].

  • Chronic active Epstein-Barr virus infection associated with mutations in perforin that impair its maturation.
    Katano H, Ali MA, Patera AC, Catalfamo M, Jaffe ES, Kimura H, Dale JK, Straus SE, Cohen JI
    Blood 2004(4): 1244-52 [PubMed abstract].

    2003

  • Characteristic perforin gene mutations of haemophagocytic lymphohistiocytosis patients in Japan.
    Ueda I, Morimoto A, Inaba T, Yagi T, Hibi S, Sugimoto T, Sako M, Yanai F, Fukushima T, Nakayama M, Ishii E, Imashuku S
    Br J Haematol 2003(3): 503-10 [PubMed abstract].

  • Acute inflammatory demyelinating polyradiculoneuropathy associated with perforin-deficient familial haemophagocytic lymphohistiocytosis.
    Del Giudice E, Savoldi G, Notarangelo LD, Di Benedetto L, Manganelli F, Bruzzese E, Romano A, Santoro L
    Acta Paediatr 2003(3): 398-401 [PubMed abstract].

  • Clinical and genetic studies of familial hemophagocytic lymphohistiocytosis in Oman: need for early treatment.
    Al-Lamki Z, Wali YA, Pathare A, Ericson KG, Henter JI
    Pediatr Hematol Oncol 2003(8): 603-9 [PubMed abstract].

  • Novel perforin mutation in a patient with hemophagocytic lymphohistiocytosis and CD45 abnormal splicing.
    McCormick J, Flower DR, Strobel S, Wallace DL, Beverley PC, Tchilian EZ
    Am J Med Genet A 2003(3): 255-60 [PubMed abstract].

    2002

  • Perforin expression in cytotoxic lymphocytes from patients with hemophagocytic lymphohistiocytosis and their family members.
    Kogawa K, Lee SM, Villanueva J, Marmer D, Sumegi J, Filipovich AH
    Blood 2002(1): 61-6 [PubMed abstract].

  • Functional consequences of perforin gene mutations in 22 patients with familial haemophagocytic lymphohistiocytosis.
    Feldmann J, Le Deist F, Ouachée-Chardin M, Certain S, Alexander S, Quartier P, Haddad E, Wulffraat N, Casanova JL, Blanche S, Fischer A, de Saint Basile G
    Br J Haematol 2002(4): 965-72 [PubMed abstract].

  • Perforin defects of primary haemophagocytic lymphohistiocytosis in Japan.
    Suga N, Takada H, Nomura A, Ohga S, Ishii E, Ihara K, Ohshima K, Hara T
    Br J Haematol 2002(2): 346-9 [PubMed abstract].

  • Adult onset and atypical presentation of hemophagocytic lymphohistiocytosis in siblings carrying PRF1 mutations.
    Clementi R, Emmi L, Maccario R, Liotta F, Moretta L, Danesino C, Aricó M
    Blood 2002(6): 2266-7 [PubMed abstract].

  • Haemophagocytic lymphohistiocytosis: proposal of a diagnostic algorithm based on perforin expression.
    Aricò M, Allen M, Brusa S, Clementi R, Pende D, Maccario R, Moretta L, Danesino C
    Br J Haematol 2002(1): 180-8 [PubMed abstract].

    2001

  • Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis.
    Göransdotter Ericson K, Fadeel B, Nilsson-Ardnor S, Söderhäll C, Samuelsson A, Janka G, Schneider M, Gürgey A, Yalman N, Révész T, Egeler R, Jahnukainen K, Storm-Mathiesen I, Haraldsson A, Poole J, de Saint Basile G, Nordenskjöld M, Henter J
    Am J Hum Genet 2001(3): 590-7 [PubMed abstract].

  • Six novel mutations in the PRF1 gene in children with haemophagocytic lymphohistiocytosis.
    Clementi R, zur Stadt U, Savoldi G, Varoitto S, Conter V, De Fusco C, Notarangelo LD, Schneider M, Klersy C, Janka G, Danesino C, Aricò M
    J Med Genet 2001(9): 643-6 [PubMed abstract].

    1999

  • Perforin gene defects in familial hemophagocytic lymphohistiocytosis.
    Stepp SE, Dufourcq-Lagelouse R, Le Deist F, Bhawan S, Certain S, Mathew PA, Henter JI, Bennett M, Fischer A, de Saint Basile G, Kumar V
    Science 1999(5446): 1957-9 [PubMed abstract].

    1995

  • A prospective study of CD45 isoform expression in haemophagocytic lymphohistiocytosis; an abnormal inherited immunophenotype in one family.
    Wagner R, Morgan G, Strobel S
    Clin Exp Immunol 1995(2): 216-20 [PubMed abstract].

  • Hydrops fetalis and early neonatal multiple organ failure in familial hemophagocytic lymphohistiocytosis.
    Vermeulen MJ, de Haas V, Mulder MF, Flohil C, Fetter WP, van de Kamp JM
    Eur J Med Genet (6): 417-20 [PubMed abstract].