Literature DB >> 17942886

STAT3 mutation in the original patient with Job's syndrome.

Ellen D Renner, Troy R Torgerson, Stacey Rylaarsdam, Stephanie Añover-Sombke, Karin Golob, Taylor LaFlam, Qili Zhu, Hans D Ochs.   

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Year:  2007        PMID： 17942886     DOI： 10.1056/NEJMc076367

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  25 in total

1.  Variable clinical expressivity of STAT3 mutation in hyperimmunoglobulin E syndrome: genetic and clinical studies of six patients.

Authors:  Ofir Wolach; Taco Kuijpers; Josef Ben-Ari; Ronit Gavrieli; Neta Feinstein-Goren; Marielle Alders; Ben Zion Garty; Baruch Wolach
Journal:  J Clin Immunol       Date:  2014-01-23       Impact factor: 8.317

2.  Gastrointestinal Manifestations of STAT3-Deficient Hyper-IgE Syndrome.

Authors:  Manish Arora; Preet Bagi; Anna Strongin; Jennifer Heimall; Xiongce Zhao; Monica G Lawrence; Apurva Trivedi; Carolyn Henderson; Amy Hsu; Martha Quezado; David E Kleiner; Aradhana M Venkatesan; Steven M Holland; Alexandra F Freeman; Theo Heller
Journal:  J Clin Immunol       Date:  2017-08-13       Impact factor: 8.317

Review 3.  Human hyper-IgE syndrome: singular or plural?

Authors:  Qian Zhang; Bertrand Boisson; Vivien Béziat; Anne Puel; Jean-Laurent Casanova
Journal:  Mamm Genome       Date:  2018-08-09       Impact factor: 2.957

4.  DOCK8 deficiency: clinical and immunological phenotype and treatment options - a review of 136 patients.

Authors:  Susanne E Aydin; Sara Sebnem Kilic; Caner Aytekin; Ashish Kumar; Oscar Porras; Leena Kainulainen; Larysa Kostyuchenko; Ferah Genel; Necil Kütükcüler; Neslihan Karaca; Luis Gonzalez-Granado; Jordan Abbott; Daifulah Al-Zahrani; Nima Rezaei; Zeina Baz; Jens Thiel; Stephan Ehl; László Marodi; Jordan S Orange; Julie Sawalle-Belohradsky; Sevgi Keles; Steven M Holland; Özden Sanal; Deniz C Ayvaz; Ilhan Tezcan; Hamoud Al-Mousa; Zobaida Alsum; Abbas Hawwari; Ayse Metin; Susanne Matthes-Martin; Manfred Hönig; Ansgar Schulz; Capucine Picard; Vincent Barlogis; Andrew Gennery; Marianne Ifversen; Joris van Montfrans; Taco Kuijpers; Robbert Bredius; Gregor Dückers; Waleed Al-Herz; Sung-Yun Pai; Raif Geha; Gundula Notheis; Carl-Philipp Schwarze; Betül Tavil; Fatih Azik; Kirsten Bienemann; Bodo Grimbacher; Valerie Heinz; H Bobby Gaspar; Roland Aydin; Beate Hagl; Benjamin Gathmann; Bernd H Belohradsky; Hans D Ochs; Talal Chatila; Ellen D Renner; Helen Su; Alexandra F Freeman; Karin Engelhardt; Michael H Albert
Journal:  J Clin Immunol       Date:  2015-01-28       Impact factor: 8.317

5.  A deep intronic splice mutation of STAT3 underlies hyper IgE syndrome by negative dominance.

Authors:  Joëlle Khourieh; Geetha Rao; Tanwir Habib; Danielle T Avery; Alain Lefèvre-Utile; Marie-Olivia Chandesris; Aziz Belkadi; Maya Chrabieh; Hanan Alwaseem; Virginie Grandin; Françoise Sarrot-Reynauld; Agathe Sénéchal; Olivier Lortholary; Xiao-Fei Kong; Stéphanie Boisson-Dupuis; Capucine Picard; Anne Puel; Vivien Béziat; Qian Zhang; Laurent Abel; Henrik Molina; Nico Marr; Stuart G Tangye; Jean-Laurent Casanova; Bertrand Boisson
Journal:  Proc Natl Acad Sci U S A       Date:  2019-07-25       Impact factor: 11.205

6.  Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment.

Authors:  Yu Zhang; Xiaomin Yu; Mie Ichikawa; Jonathan J Lyons; Shrimati Datta; Ian T Lamborn; Huie Jing; Emily S Kim; Matthew Biancalana; Lynne A Wolfe; Thomas DiMaggio; Helen F Matthews; Sarah M Kranick; Kelly D Stone; Steven M Holland; Daniel S Reich; Jason D Hughes; Huseyin Mehmet; Joshua McElwee; Alexandra F Freeman; Hudson H Freeze; Helen C Su; Joshua D Milner
Journal:  J Allergy Clin Immunol       Date:  2014-02-28       Impact factor: 10.793

7.  Tumor-derived mutations in the gene associated with retinoid interferon-induced mortality (GRIM-19) disrupt its anti-signal transducer and activator of transcription 3 (STAT3) activity and promote oncogenesis.

Authors:  Shreeram C Nallar; Sudhakar Kalakonda; Daniel J Lindner; Robert R Lorenz; Eric Lamarre; Xiao Weihua; Dhananjaya V Kalvakolanu
Journal:  J Biol Chem       Date:  2013-02-05       Impact factor: 5.157

Review 8.  New insights into the roles of Stat5a/b and Stat3 in T cell development and differentiation.

Authors:  Lai Wei; Arian Laurence; John J O'Shea
Journal:  Semin Cell Dev Biol       Date:  2008-07-30       Impact factor: 7.727

9.  Genetic origins of hyper-IgE syndrome.

Authors:  Yoshiyuki Minegishi; Hajime Karasuyama
Journal:  Curr Allergy Asthma Rep       Date:  2008-09       Impact factor: 4.806

10.  Polymorphisms in inflammation-related genes are associated with susceptibility to major depression and antidepressant response.

Authors:  M-L Wong; C Dong; J Maestre-Mesa; J Licinio
Journal:  Mol Psychiatry       Date:  2008-05-27       Impact factor: 15.992
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