Literature DB >> 27844301

AD Hyper-IgE Syndrome Due to a Novel Loss-of-Function Mutation in STAT3: a Diagnostic Pursuit Won by Clinical Acuity.

Leen Moens1, Heidi Schaballie2,3, Barbara Bosch3,4, Arnout Voet5, Xavier Bossuyt1, Jean-Laurent Casanova4,6,7,8,9, Stephanie Boisson-Dupuis4,7,10, Stuart G Tangye11,12, Isabelle Meyts13,14.   

Abstract

Entities:  

Keywords:  Autosomal dominant hyper-IgE syndrome; STAT3; autism; unconventional T cells

Mesh：

Substances：

Year:  2016        PMID： 27844301     DOI： 10.1007/s10875-016-0351-9

Source DB:  PubMed          Journal:  J Clin Immunol        ISSN： 0271-9142            Impact factor:   8.317


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  27 in total

1.  Functional STAT3 deficiency compromises the generation of human T follicular helper cells.

Authors:  Cindy S Ma; Danielle T Avery; Anna Chan; Marcel Batten; Jacinta Bustamante; Stephanie Boisson-Dupuis; Peter D Arkwright; Alexandra Y Kreins; Diana Averbuch; Dan Engelhard; Klaus Magdorf; Sara S Kilic; Yoshiyuki Minegishi; Shigeaki Nonoyama; Martyn A French; Sharon Choo; Joanne M Smart; Jane Peake; Melanie Wong; Paul Gray; Matthew C Cook; David A Fulcher; Jean-Laurent Casanova; Elissa K Deenick; Stuart G Tangye
Journal:  Blood       Date:  2012-03-08       Impact factor: 22.113

Review 2.  Behavioral and Psychiatric Phenotypes in 22q11.2 Deletion Syndrome.

Authors:  Kerri L Tang; Kevin M Antshel; Wanda P Fremont; Wendy R Kates
Journal:  J Dev Behav Pediatr       Date:  2015-10       Impact factor: 2.225

Review 3.  The Ying and Yang of STAT3 in Human Disease.

Authors:  Tiphanie P Vogel; Joshua D Milner; Megan A Cooper
Journal:  J Clin Immunol       Date:  2015-08-18       Impact factor: 8.317

4.  Novel and recurrent STAT3 mutations in hyper-IgE syndrome patients from different ethnic groups.

Authors:  Hong Jiao; Beáta Tóth; Melinda Erdos; Ingegerd Fransson; Eva Rákóczi; István Balogh; Zoltán Magyarics; Beáta Dérfalvi; Gabriella Csorba; Anna Szaflarska; Andre Megarbane; Carlo Akatcherian; Ghassan Dbaibo; Eva Rajnavölgyi; Lennart Hammarström; Juha Kere; Gérard Lefranc; László Maródi
Journal:  Mol Immunol       Date:  2008-08-15       Impact factor: 4.407

5.  Vdelta1 T lymphocytes producing IFN-gamma and IL-17 are expanded in HIV-1-infected patients and respond to Candida albicans.

Authors:  Daniela Fenoglio; Alessandro Poggi; Silvia Catellani; Florinda Battaglia; Alessandra Ferrera; Maurizio Setti; Giuseppe Murdaca; Maria Raffaella Zocchi
Journal:  Blood       Date:  2009-04-24       Impact factor: 22.113

6.  Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome.

Authors:  Cristina Woellner; E Michael Gertz; Alejandro A Schäffer; Macarena Lagos; Mario Perro; Erik-Oliver Glocker; Maria C Pietrogrande; Fausto Cossu; José L Franco; Nuria Matamoros; Barbara Pietrucha; Edyta Heropolitańska-Pliszka; Mehdi Yeganeh; Mostafa Moin; Teresa Español; Stephan Ehl; Andrew R Gennery; Mario Abinun; Anna Breborowicz; Tim Niehues; Sara Sebnem Kilic; Anne Junker; Stuart E Turvey; Alessandro Plebani; Berta Sánchez; Ben-Zion Garty; Claudio Pignata; Caterina Cancrini; Jiri Litzman; Ozden Sanal; Ulrich Baumann; Rosa Bacchetta; Amy P Hsu; Joie N Davis; Lennart Hammarström; E Graham Davies; Efrem Eren; Peter D Arkwright; Jukka S Moilanen; Dorothee Viemann; Sujoy Khan; László Maródi; Andrew J Cant; Alexandra F Freeman; Jennifer M Puck; Steven M Holland; Bodo Grimbacher
Journal:  J Allergy Clin Immunol       Date:  2010-02       Impact factor: 10.793

7.  IMMUNODEFICIENCIES. Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations.

Authors:  Satoshi Okada; Janet G Markle; Elissa K Deenick; Federico Mele; Dina Averbuch; Macarena Lagos; Mohammed Alzahrani; Saleh Al-Muhsen; Andrea M Cooper; Luigi D Notarangelo; Stéphanie Boisson-Dupuis; Anne Puel; Federica Sallusto; Jacinta Bustamante; Stuart G Tangye; Rabih Halwani; Cindy S Ma; Natalie Wong; Claire Soudais; Lauren A Henderson; Hiyam Marzouqa; Jamal Shamma; Marcela Gonzalez; Rubén Martinez-Barricarte; Chizuru Okada; Danielle T Avery; Daniela Latorre; Caroline Deswarte; Fabienne Jabot-Hanin; Egidio Torrado; Jeffrey Fountain; Aziz Belkadi; Yuval Itan; Bertrand Boisson; Mélanie Migaud; Cecilia S Lindestam Arlehamn; Alessandro Sette; Sylvain Breton; James McCluskey; Jamie Rossjohn; Jean-Pierre de Villartay; Despina Moshous; Sophie Hambleton; Sylvain Latour; Peter D Arkwright; Capucine Picard; Olivier Lantz; Dan Engelhard; Masao Kobayashi; Laurent Abel; Jean-Laurent Casanova
Journal:  Science       Date:  2015-07-09       Impact factor: 47.728

8.  Analphoid marker chromosome in a patient with hyper-IgE syndrome, autism, and mild mental retardation.

Authors:  B Grimbacher; A S Dutra; S M Holland; R E Fischer; M Pao; J I Gallin; J M Puck
Journal:  Genet Med       Date:  1999 Jul-Aug       Impact factor: 8.822

9.  STAT3 is a critical cell-intrinsic regulator of human unconventional T cell numbers and function.

Authors:  Robert P Wilson; Megan L Ives; Geetha Rao; Anthony Lau; Kathryn Payne; Masao Kobayashi; Peter D Arkwright; Jane Peake; Melanie Wong; Stephen Adelstein; Joanne M Smart; Martyn A French; David A Fulcher; Capucine Picard; Jacinta Bustamante; Stephanie Boisson-Dupuis; Paul Gray; Polina Stepensky; Klaus Warnatz; Alexandra F Freeman; Jamie Rossjohn; James McCluskey; Steven M Holland; Jean-Laurent Casanova; Gulbu Uzel; Cindy S Ma; Stuart G Tangye; Elissa K Deenick
Journal:  J Exp Med       Date:  2015-05-04       Impact factor: 14.307

10.  Unique and shared signaling pathways cooperate to regulate the differentiation of human CD4+ T cells into distinct effector subsets.

Authors:  Cindy S Ma; Natalie Wong; Geetha Rao; Akira Nguyen; Danielle T Avery; Kathryn Payne; James Torpy; Patrick O'Young; Elissa Deenick; Jacinta Bustamante; Anne Puel; Satoshi Okada; Masao Kobayashi; Ruben Martinez-Barricarte; Michael Elliott; Sara Sebnem Kilic; Jamila El Baghdadi; Yoshiyuki Minegishi; Aziz Bousfiha; Nic Robertson; Sophie Hambleton; Peter D Arkwright; Martyn French; Annaliesse K Blincoe; Peter Hsu; Dianne E Campbell; Michael O Stormon; Melanie Wong; Stephen Adelstein; David A Fulcher; Matthew C Cook; Polina Stepensky; Kaan Boztug; Rita Beier; Aydan Ikincioğullari; John B Ziegler; Paul Gray; Capucine Picard; Stéphanie Boisson-Dupuis; Tri Giang Phan; Bodo Grimbacher; Klaus Warnatz; Steven M Holland; Gulbu Uzel; Jean-Laurent Casanova; Stuart G Tangye
Journal:  J Exp Med       Date:  2016-07-11       Impact factor: 14.307
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  4 in total

1.  Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a common TYK2 missense variant.

Authors:  Stéphanie Boisson-Dupuis; Noe Ramirez-Alejo; Zhi Li; Etienne Patin; Geetha Rao; Gaspard Kerner; Che Kang Lim; Dimitry N Krementsov; Nicholas Hernandez; Cindy S Ma; Qian Zhang; Janet Markle; Ruben Martinez-Barricarte; Kathryn Payne; Robert Fisch; Caroline Deswarte; Joshua Halpern; Matthieu Bouaziz; Jeanette Mulwa; Durga Sivanesan; Tomi Lazarov; Rodrigo Naves; Patricia Garcia; Yuval Itan; Bertrand Boisson; Alix Checchi; Fabienne Jabot-Hanin; Aurélie Cobat; Andrea Guennoun; Carolyn C Jackson; Sevgi Pekcan; Zafer Caliskaner; Jaime Inostroza; Beatriz Tavares Costa-Carvalho; Jose Antonio Tavares de Albuquerque; Humberto Garcia-Ortiz; Lorena Orozco; Tayfun Ozcelik; Ahmed Abid; Ismail Abderahmani Rhorfi; Hicham Souhi; Hicham Naji Amrani; Adil Zegmout; Frédéric Geissmann; Stephen W Michnick; Ingrid Muller-Fleckenstein; Bernhard Fleckenstein; Anne Puel; Michael J Ciancanelli; Nico Marr; Hassan Abolhassani; María Elvira Balcells; Antonio Condino-Neto; Alexis Strickler; Katia Abarca; Cory Teuscher; Hans D Ochs; Ismail Reisli; Esra H Sayar; Jamila El-Baghdadi; Jacinta Bustamante; Lennart Hammarström; Stuart G Tangye; Sandra Pellegrini; Lluis Quintana-Murci; Laurent Abel; Jean-Laurent Casanova
Journal:  Sci Immunol       Date:  2018-12-21

Review 2.  Whole-exome sequencing for detecting inborn errors of immunity: overview and perspectives.

Authors:  Barbara Bosch; Yuval Itan; Isabelle Meyts
Journal:  F1000Res       Date:  2017-11-28

3.  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

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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