Literature DB >> 24628715

Hyper IgE syndrome: anaphylaxis in a patient carrying the N567D STAT3 mutation.

Pietro Merli1, Francesca Novara, Daniela Montagna, Serena Benzo, Matteo Tanzi, Ilaria Turin, Mara De Amici, Angelo Merli, Orsetta Zuffardi, Gian Luigi Marseglia.   

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Year:  2014        PMID： 24628715     DOI： 10.1111/pai.12217

Source DB:  PubMed          Journal:  Pediatr Allergy Immunol        ISSN： 0905-6157            Impact factor:   6.377


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  4 in total

1.  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

2.  A Novel STAT3 Mutation in a Qatari Patient With Hyper-IgE Syndrome.

Authors:  Natalia S Chaimowitz; Justin Branch; Anaid Reyes; Alexander Vargas-Hernández; Jordan S Orange; Lisa R Forbes; Mohammed Ehlayel; Saleema C Purayil; Maryam Ali Al-Nesf; Tiphanie P Vogel
Journal:  Front Pediatr       Date:  2019-04-24       Impact factor: 3.418

3.  Evidence that a STAT3 Mutation Causing Hyper IgE Syndrome Leads to Repression of Transcriptional Activity.

Authors:  Sameer Bahal; Maha E Houssen; Ania Manson; Lorena Lorenzo; Mark A Russell; Noel G Morgan; Fariba Tahami; Sofia Grigoriadou
Journal:  Case Reports Immunol       Date:  2019-10-13

4.  Human STAT3 variants underlie autosomal dominant hyper-IgE syndrome by negative dominance.

Authors:  Joëlle Khourieh; Peng Zhang; Franck Rapaport; Qian Zhang; Anne Puel; Vivien Béziat; Jean-Laurent Casanova; Bertrand Boisson; Takaki Asano; András N Spaan; Juan Li; Wei-Te Lei; Simon J Pelham; David Hum; Maya Chrabieh; Ji Eun Han; Antoine Guérin; Joseph Mackie; Sudhir Gupta; Biman Saikia; Jamila E I Baghdadi; Ilham Fadil; Aziz Bousfiha; Tanwir Habib; Nico Marr; Luckshman Ganeshanandan; Jane Peake; Luke Droney; Andrew Williams; Fatih Celmeli; Nevin Hatipoglu; Tayfun Ozcelik; Capucine Picard; Laurent Abel; Stuart G Tangye; Stéphanie Boisson-Dupuis
Journal:  J Exp Med       Date:  2021-06-17       Impact factor: 14.307
  4 in total

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