Literature DB >> 31102697

A novel variant in STAT2 presenting with hemophagocytic lymphohistiocytosis.

Mohammed F Alosaimi1, Michelle C Maciag2, Craig D Platt2, Raif S Geha2, Janet Chou2, Lisa M Bartnikas3.   

Abstract

Entities:  

Year:  2019        PMID： 31102697      PMCID： PMC6688952          DOI： 10.1016/j.jaci.2019.05.008

Source DB:  PubMed          Journal:  J Allergy Clin Immunol        ISSN： 0091-6749            Impact factor:   10.793


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  8 in total

1.  HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis.

Authors:  Jan-Inge Henter; Annacarin Horne; Maurizio Aricó; R Maarten Egeler; Alexandra H Filipovich; Shinsaku Imashuku; Stephan Ladisch; Ken McClain; David Webb; Jacek Winiarski; Gritta Janka
Journal:  Pediatr Blood Cancer       Date:  2007-02       Impact factor: 3.167

2.  Hemophagocytic lymphohistiocytosis in 2 patients with underlying IFN-γ receptor deficiency.

Authors:  Bianca Tesi; Elena Sieni; Conceição Neves; Francesca Romano; Valentina Cetica; Ana Isabel Cordeiro; Samuel Chiang; Heinrich Schlums; Luisa Galli; Stefano Avenali; Annalisa Tondo; Clementina Canessa; Jan-Inge Henter; Magnus Nordenskjöld; Amy P Hsu; Steven M Holland; João F Neves; Chiara Azzari; Yenan T Bryceson
Journal:  J Allergy Clin Immunol       Date:  2015-01-13       Impact factor: 10.793

3.  A novel kindred with inherited STAT2 deficiency and severe viral illness.

Authors:  Leen Moens; Lien Van Eyck; Dirk Jochmans; Tania Mitera; Glynis Frans; Xavier Bossuyt; Patrick Matthys; Johan Neyts; Michael Ciancanelli; Shen-Ying Zhang; Rik Gijsbers; Jean-Laurent Casanova; Stephanie Boisson-Dupuis; Isabelle Meyts; Adrian Liston
Journal:  J Allergy Clin Immunol       Date:  2017-01-10       Impact factor: 10.793

4.  The syndrome of hemophagocytic lymphohistiocytosis in primary immunodeficiencies: implications for differential diagnosis and pathogenesis.

Authors:  Sebastian Fn Bode; Sandra Ammann; Waleed Al-Herz; Mihaela Bataneant; Christopher C Dvorak; Stephan Gehring; Andrew Gennery; Kimberly C Gilmour; Luis I Gonzalez-Granado; Ute Groß-Wieltsch; Marianne Ifversen; Jenny Lingman-Framme; Susanne Matthes-Martin; Rolf Mesters; Isabelle Meyts; Joris M van Montfrans; Jana Pachlopnik Schmid; Sung-Yun Pai; Pere Soler-Palacin; Uta Schuermann; Volker Schuster; Markus G Seidel; Carsten Speckmann; Polina Stepensky; Karl-Walter Sykora; Bianca Tesi; Thomas Vraetz; Catherine Waruiru; Yenan T Bryceson; Despina Moshous; Kai Lehmberg; Michael B Jordan; Stephan Ehl
Journal:  Haematologica       Date:  2015-05-28       Impact factor: 9.941

5.  The latent membrane protein 1 of Epstein-Barr virus establishes an antiviral state via induction of interferon-stimulated genes.

Authors:  Jun Zhang; Subash C Das; Catherine Kotalik; Asit K Pattnaik; Luwen Zhang
Journal:  J Biol Chem       Date:  2004-08-20       Impact factor: 5.157

6.  STAT2 deficiency and susceptibility to viral illness in humans.

Authors:  Sophie Hambleton; Stephen Goodbourn; Dan F Young; Paul Dickinson; Siti M B Mohamad; Manoj Valappil; Naomi McGovern; Andrew J Cant; Scott J Hackett; Peter Ghazal; Neil V Morgan; Richard E Randall
Journal:  Proc Natl Acad Sci U S A       Date:  2013-02-07       Impact factor: 11.205

7.  Multiple signal transducers and activators of transcription are induced by EBV LMP-1.

Authors:  Luwen Zhang; Ke Hong; Jun Zhang; Joseph S Pagano
Journal:  Virology       Date:  2004-05-20       Impact factor: 3.616

8.  Signal transducer and activator of transcription 2 deficiency is a novel disorder of mitochondrial fission.

Authors:  Rojeen Shahni; Catherine M Cale; Glenn Anderson; Laura D Osellame; Sophie Hambleton; Thomas S Jacques; Yehani Wedatilake; Jan-Willem Taanman; Emma Chan; Waseem Qasim; Vincent Plagnol; Annapurna Chalasani; Michael R Duchen; Kimberly C Gilmour; Shamima Rahman
Journal:  Brain       Date:  2015-06-29       Impact factor: 13.501
  8 in total
  12 in total

Review 1.  Exposing the Two Contrasting Faces of STAT2 in Inflammation.

Authors:  Philip Duodu; Geohaira Sosa; Jorge Canar; Olivia Chhugani; Ana M Gamero
Journal:  J Interferon Cytokine Res       Date:  2022-07-25       Impact factor: 3.657

Review 2.  Human Disease Phenotypes Associated with Loss and Gain of Function Mutations in STAT2: Viral Susceptibility and Type I Interferonopathy.

Authors:  Christopher James Arthur Duncan; Sophie Hambleton
Journal:  J Clin Immunol       Date:  2021-08-26       Impact factor: 8.317

3.  Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiency.

Authors:  Tessa Mollie Campbell; Zhiyong Liu; Qian Zhang; Jean-Laurent Casanova; Isabelle Meyts; Yenan T Bryceson; Marcela Moncada-Velez; Laura E Covill; Peng Zhang; Ilad Alavi Darazam; Paul Bastard; Lucy Bizien; Giorgia Bucciol; Sara Lind Enoksson; Emmanuelle Jouanguy; Şemsi Nur Karabela; Taushif Khan; Yasemin Kendir-Demirkol; Andres Augusto Arias; Davood Mansouri; Per Marits; Nico Marr; Isabelle Migeotte; Leen Moens; Tayfun Ozcelik; Isabelle Pellier; Anton Sendel; Mohammad Shahrooei; C I Edvard Smith; Isabelle Vandernoot; Karen Willekens; Peter Bergman; Laurent Abel; Aurélie Cobat
Journal:  J Exp Med       Date:  2022-06-07       Impact factor: 17.579

4.  Life-Threatening Influenza, Hemophagocytic Lymphohistiocytosis and Probable Vaccine-Strain Varicella in a Novel Case of Homozygous STAT2 Deficiency.

Authors:  Bishara J Freij; Aidan T Hanrath; Rui Chen; Sophie Hambleton; Christopher J A Duncan
Journal:  Front Immunol       Date:  2021-02-18       Impact factor: 7.561

5.  A Novel Case of Homozygous Interferon Alpha/Beta Receptor Alpha Chain (IFNAR1) Deficiency With Hemophagocytic Lymphohistiocytosis.

Authors:  Florian Gothe; Catherine F Hatton; Linh Truong; Zofia Klimova; Veronika Kanderova; Martina Fejtkova; Angela Grainger; Venetia Bigley; Joanna Perthen; Dipayan Mitra; Ales Janda; Eva Fronkova; Dusana Moravcikova; Sophie Hambleton; Christopher J A Duncan
Journal:  Clin Infect Dis       Date:  2022-01-07       Impact factor: 20.999

6.  Inherited IFNAR1 Deficiency in a Child with Both Critical COVID-19 Pneumonia and Multisystem Inflammatory Syndrome.

Authors:  Hassan Abolhassani; Nils Landegren; Paul Bastard; Marie Materna; Mohammadreza Modaresi; Likun Du; Maribel Aranda-Guillén; Fabian Sardh; Fanglei Zuo; Peng Zhang; Harold Marcotte; Nico Marr; Taushif Khan; Manar Ata; Fatima Al-Ali; Remi Pescarmona; Alexandre Belot; Vivien Béziat; Qian Zhang; Jean-Laurent Casanova; Olle Kämpe; Shen-Ying Zhang; Lennart Hammarström; Qiang Pan-Hammarström
Journal:  J Clin Immunol       Date:  2022-01-28       Impact factor: 8.542

Review 7.  Viral infections in humans and mice with genetic deficiencies of the type I IFN response pathway.

Authors:  Isabelle Meyts; Jean-Laurent Casanova
Journal:  Eur J Immunol       Date:  2021-04-04       Impact factor: 5.532

8.  Genetic, Immunological, and Clinical Features of 32 Patients with Autosomal Recessive STAT1 Deficiency.

Authors:  Tom Le Voyer; Sonoko Sakata; Miyuki Tsumura; Taushif Khan; Ana Esteve-Sole; Bandar K Al-Saud; Hatice Eke Gungor; Prasad Taur; Valentine Jeanne-Julien; Mette Christiansen; Lisa-Maria Köhler; Gehad Eltayeb ElGhazali; Jérémie Rosain; Shiho Nishimura; Fumiaki Sakura; Matthieu Bouaziz; Carmen Oleaga-Quintas; Alejandro Nieto-Patlán; Àngela Deyà-Martinez; Yasemin Altuner Torun; Anna-Lena Neehus; Manon Roynard; Sefika Elmas Bozdemir; Nawal Al Kaabi; Moza Al Hassani; Irina Mersiyanova; Flore Rozenberg; Carsten Speckmann; Ina Hainmann; Fabian Hauck; Mohammed Hamdan Alzahrani; Sami Hussain Alhajjar; Saleh Al-Muhsen; Theresa Cole; Ramsay Fuleihan; Peter D Arkwright; Raffaele Badolato; Laia Alsina; Laurent Abel; Mukesh Desai; Hamoud Al-Mousa; Anna Shcherbina; Nico Marr; Stéphanie Boisson-Dupuis; Jean-Laurent Casanova; Satoshi Okada; Jacinta Bustamante
Journal:  J Immunol       Date:  2021-06-28       Impact factor: 5.426

9.  IFNAR2 Deficiency Causing Dysregulation of NK Cell Functions and Presenting With Hemophagocytic Lymphohistiocytosis.

Authors:  Chiara Passarelli; Adele Civino; Marianna N Rossi; Loredana Cifaldi; Valentina Lanari; Gian Marco Moneta; Ivan Caiello; Claudia Bracaglia; Raffaele Montinaro; Antonio Novelli; Fabrizio De Benedetti; Giusi Prencipe
Journal:  Front Genet       Date:  2020-09-18       Impact factor: 4.599

Review 10.  Genetic Lesions of Type I Interferon Signalling in Human Antiviral Immunity.

Authors:  Christopher J A Duncan; Richard E Randall; Sophie Hambleton
Journal:  Trends Genet       Date:  2020-09-22       Impact factor: 11.639
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