Literature DB >> 27117246

A novel presentation of homozygous loss-of-function STAT-1 mutation in an infant with hyperinflammation-A case report and review of the literature.

Charlotte Burns1, Abigail Cheung2, Zornitza Stark3, Sharon Choo2, Lilian Downie3, Sue White4, Rachel Conyers5, Theresa Cole2.   

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Year:  2016        PMID： 27117246     DOI： 10.1016/j.jaip.2016.02.015

Source DB:  PubMed          Journal:  J Allergy Clin Immunol Pract


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  20 in total

1.  Lymphocyte-independent pathways underlie the pathogenesis of murine cytomegalovirus-associated secondary haemophagocytic lymphohistiocytosis.

Authors:  E Brisse; M Imbrechts; T Mitera; J Vandenhaute; N Berghmans; L Boon; C Wouters; R Snoeck; G Andrei; P Matthys
Journal:  Clin Exp Immunol       Date:  2018-01-18       Impact factor: 4.330

Review 2.  Life-Threatening Infections Due to Live-Attenuated Vaccines: Early Manifestations of Inborn Errors of Immunity.

Authors:  Laura Pöyhönen; Jacinta Bustamante; Jean-Laurent Casanova; Emmanuelle Jouanguy; Qian Zhang
Journal:  J Clin Immunol       Date:  2019-05-23       Impact factor: 8.317

3.  Genetic Deficiency of Interferon-γ Reveals Interferon-γ-Independent Manifestations of Murine Hemophagocytic Lymphohistiocytosis.

Authors:  Thomas N Burn; Lehn Weaver; Julia E Rood; Niansheng Chu; Aaron Bodansky; Portia A Kreiger; Edward M Behrens
Journal:  Arthritis Rheumatol       Date:  2019-12-15       Impact factor: 10.995

4.  Herpes simplex encephalitis in a patient with a distinctive form of inherited IFNAR1 deficiency.

Authors:  Paul Bastard; Jeremy Manry; Jie Chen; Jérémie Rosain; Yoann Seeleuthner; Omar AbuZaitun; Lazaro Lorenzo; Taushif Khan; Mary Hasek; Nicholas Hernandez; Benedetta Bigio; Peng Zhang; Romain Lévy; Shai Shrot; Eduardo J Garcia Reino; Yoon-Seung Lee; Soraya Boucherit; Mélodie Aubart; Rik Gijsbers; Vivien Béziat; Zhi Li; Sandra Pellegrini; Flore Rozenberg; Nico Marr; Isabelle Meyts; Bertrand Boisson; Aurélie Cobat; Jacinta Bustamante; Qian Zhang; Emmanuelle Jouangy; Laurent Abel; Raz Somech; Jean-Laurent Casanova; Shen-Ying Zhang
Journal:  J Clin Invest       Date:  2021-01-04       Impact factor: 14.808

Review 5.  Human inborn errors of immunity to infection affecting cells other than leukocytes: from the immune system to the whole organism.

Authors:  Shen-Ying Zhang; Emmanuelle Jouanguy; Qian Zhang; Laurent Abel; Anne Puel; Jean-Laurent Casanova
Journal:  Curr Opin Immunol       Date:  2019-05-20       Impact factor: 7.486

6.  Inherited IFNAR1 deficiency in otherwise healthy patients with adverse reaction to measles and yellow fever live vaccines.

Authors:  Nicholas Hernandez; Giorgia Bucciol; Leen Moens; Jérémie Le Pen; Mohammad Shahrooei; Ekaterini Goudouris; Afshin Shirkani; Majid Changi-Ashtiani; Hassan Rokni-Zadeh; Stephen J Seligman; Laurent Abel; Paul Hertzog; Nico Marr; Reinaldo de Menezes Martins; Isabelle Meyts; Qian Zhang; Margaret R MacDonald; Charles M Rice; Jean-Laurent Casanova; Emmanuelle Jouanguy; Xavier Bossuyt; Esra Hazar Sayar; Ismail Reisli; Alain Lefevre-Utile; Dick Zijlmans; Andrea Jurado; Ruben Pholien; Scott Drutman; Serkan Belkaya; Aurelie Cobat; Robbert Boudewijns; Dirk Jochmans; Johan Neyts; Yoann Seeleuthner; Lazaro Lorenzo-Diaz; Chibuzo Enemchukwu; Ian Tietjen; Hans-Heinrich Hoffmann; Mana Momenilandi; Laura Pöyhönen; Marilda M Siqueira; Sheila M Barbosa de Lima; Denise C de Souza Matos; Akira Homma; Maria de Lourdes S Maia; Tamiris Azamor da Costa Barros; Patricia Mouta Nunes de Oliveira; Emersom Ciclini Mesquita; Rik Gijsbers; Shen-Ying Zhang
Journal:  J Exp Med       Date:  2019-07-03       Impact factor: 14.307

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.  A Novel Complete Autosomal-Recessive STAT1 LOF Variant Causes Immunodeficiency with Hemophagocytic Lymphohistiocytosis-Like Hyperinflammation.

Authors:  Daniel F R Boehmer; Lisa M Koehler; Thomas Magg; Philipp Metzger; Meino Rohlfs; Julia Ahlfeld; Anita Rack-Hoch; Karl Reiter; Michael H Albert; Stefan Endres; Simon Rothenfusser; Christoph Klein; Lars M Koenig; Fabian Hauck
Journal:  J Allergy Clin Immunol Pract       Date:  2020-06-27

10.  Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency.

Authors:  Nicholas Hernandez; Isabelle Melki; Huie Jing; Tanwir Habib; Susie S Y Huang; Jeffrey Danielson; Tomasz Kula; Scott Drutman; Serkan Belkaya; Vimel Rattina; Lazaro Lorenzo-Diaz; Anais Boulai; Yoann Rose; Naoki Kitabayashi; Mathieu P Rodero; Cecile Dumaine; Stéphane Blanche; Marie-Noëlle Lebras; Man Chun Leung; Lisa Sara Mathew; Bertrand Boisson; Shen-Ying Zhang; Stephanie Boisson-Dupuis; Silvia Giliani; Damien Chaussabel; Luigi D Notarangelo; Stephen J Elledge; Michael J Ciancanelli; Laurent Abel; Qian Zhang; Nico Marr; Yanick J Crow; Helen C Su; Jean-Laurent Casanova
Journal:  J Exp Med       Date:  2018-08-24       Impact factor: 14.307
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