Literature DB >> 26661331

Immune Dysregulation Syndromes (IPEX, CD27 Deficiency, and Others): Always Doomed from the Start?

Markus G Seidel1, Kaan Boztug2,3, Oskar A Haas4.   

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Year:  2015        PMID: 26661331     DOI: 10.1007/s10875-015-0218-5

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


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  11 in total

1.  Concurrent FOXP3- and CTLA4-associated genetic predisposition and skewed X chromosome inactivation in an autoimmune disease-prone family.

Authors:  M G Seidel; B Rami; C Item; E Schober; P Zeitlhofer; W D Huber; A Heitger; O A Bodamer; O A Haas
Journal:  Eur J Endocrinol       Date:  2012-03-26       Impact factor: 6.664

2.  Point mutants of forkhead box P3 that cause immune dysregulation, polyendocrinopathy, enteropathy, X-linked have diverse abilities to reprogram T cells into regulatory T cells.

Authors:  Alicia N McMurchy; Jana Gillies; Sarah E Allan; Laura Passerini; Eleonora Gambineri; Maria Grazia Roncarolo; Rosa Bacchetta; Megan K Levings
Journal:  J Allergy Clin Immunol       Date:  2010-10-30       Impact factor: 10.793

3.  Novel mutations in TNFRSF7/CD27: Clinical, immunologic, and genetic characterization of human CD27 deficiency.

Authors:  Omar K Alkhairy; Ruy Perez-Becker; Gertjan J Driessen; Hassan Abolhassani; Joris van Montfrans; Stephan Borte; Sharon Choo; Ning Wang; Kiki Tesselaar; Mingyan Fang; Kirsten Bienemann; Kaan Boztug; Ana Daneva; Francoise Mechinaud; Thomas Wiesel; Christian Becker; Gregor Dückers; Kathrin Siepermann; Menno C van Zelm; Nima Rezaei; Mirjam van der Burg; Asghar Aghamohammadi; Markus G Seidel; Tim Niehues; Lennart Hammarström
Journal:  J Allergy Clin Immunol       Date:  2015-04-03       Impact factor: 10.793

4.  Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations.

Authors:  Susan Price; Pamela A Shaw; Amy Seitz; Gyan Joshi; Joie Davis; Julie E Niemela; Katie Perkins; Ronald L Hornung; Les Folio; Philip S Rosenberg; Jennifer M Puck; Amy P Hsu; Bernice Lo; Stefania Pittaluga; Elaine S Jaffe; Thomas A Fleisher; V Koneti Rao; Michael J Lenardo
Journal:  Blood       Date:  2014-01-07       Impact factor: 22.113

5.  Single amino acid charge switch defines clinically distinct proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1)-associated inflammatory diseases.

Authors:  Dirk Holzinger; Selina Kathleen Fassl; Wilco de Jager; Peter Lohse; Ute F Röhrig; Marco Gattorno; Alessia Omenetti; Sabrina Chiesa; Francesca Schena; Judith Austermann; Thomas Vogl; Douglas B Kuhns; Steven M Holland; Carlos Rodríguez-Gallego; Ricardo López-Almaraz; Juan I Arostegui; Elena Colino; Rosa Roldan; Smaragdi Fessatou; Bertrand Isidor; Sylvaine Poignant; Koichi Ito; Hans-Joerg Epple; Jonathan A Bernstein; Michael Jeng; Jennifer Frankovich; Geraldina Lionetti; Joseph A Church; Peck Y Ong; Mona LaPlant; Mario Abinun; Rod Skinner; Venetia Bigley; Ulrich J Sachs; Claas Hinze; Esther Hoppenreijs; Jan Ehrchen; Dirk Foell; Jae Jin Chae; Amanda Ombrello; Ivona Aksentijevich; Cord Sunderkoetter; Johannes Roth
Journal:  J Allergy Clin Immunol       Date:  2015-05-27       Impact factor: 10.793

6.  Clinical and molecular profile of a new series of patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: inconsistent correlation between forkhead box protein 3 expression and disease severity.

Authors:  Eleonora Gambineri; Lucia Perroni; Laura Passerini; Lucia Bianchi; Claudio Doglioni; Franco Meschi; Riccardo Bonfanti; Yves Sznajer; Alberto Tommasini; Anita Lawitschka; Anne Junker; Desiree Dunstheimer; Peter H Heidemann; Giantonio Cazzola; Marco Cipolli; Wilhelm Friedrich; Dragana Janic; Nadira Azzi; Erick Richmond; Silvia Vignola; Arrigo Barabino; Giuseppe Chiumello; Chiara Azzari; Maria-Grazia Roncarolo; Rosa Bacchetta
Journal:  J Allergy Clin Immunol       Date:  2008-10-25       Impact factor: 10.793

7.  Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4.

Authors:  Hye Sun Kuehn; Weiming Ouyang; Bernice Lo; Elissa K Deenick; Julie E Niemela; Danielle T Avery; Jean-Nicolas Schickel; Dat Q Tran; Jennifer Stoddard; Yu Zhang; David M Frucht; Bogdan Dumitriu; Phillip Scheinberg; Les R Folio; Cathleen A Frein; Susan Price; Christopher Koh; Theo Heller; Christine M Seroogy; Anna Huttenlocher; V Koneti Rao; Helen C Su; David Kleiner; Luigi D Notarangelo; Yajesh Rampertaap; Kenneth N Olivier; Joshua McElwee; Jason Hughes; Stefania Pittaluga; Joao B Oliveira; Eric Meffre; Thomas A Fleisher; Steven M Holland; Michael J Lenardo; Stuart G Tangye; Gulbu Uzel
Journal:  Science       Date:  2014-09-11       Impact factor: 47.728

8.  The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency.

Authors:  Laura Gámez-Díaz; Dietrich August; Polina Stepensky; Shoshana Revel-Vilk; Markus G Seidel; Mitsuiki Noriko; Tomohiro Morio; Austen J J Worth; Jacob Blessing; Frank Van de Veerdonk; Tobias Feuchtinger; Maria Kanariou; Annette Schmitt-Graeff; Sophie Jung; Suranjith Seneviratne; Siobhan Burns; Bernd H Belohradsky; Nima Rezaei; Shahrzad Bakhtiar; Carsten Speckmann; Michael Jordan; Bodo Grimbacher
Journal:  J Allergy Clin Immunol       Date:  2016-01       Impact factor: 10.793

9.  Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations.

Authors:  Desirée Schubert; Claudia Bode; Rupert Kenefeck; Tie Zheng Hou; Lucy S K Walker; David M Sansom; Bodo Grimbacher; James B Wing; Alan Kennedy; Alla Bulashevska; Britt-Sabina Petersen; Alejandro A Schäffer; Björn A Grüning; Susanne Unger; Natalie Frede; Ulrich Baumann; Torsten Witte; Reinhold E Schmidt; Gregor Dueckers; Tim Niehues; Suranjith Seneviratne; Maria Kanariou; Carsten Speckmann; Stephan Ehl; Anne Rensing-Ehl; Klaus Warnatz; Mirzokhid Rakhmanov; Robert Thimme; Peter Hasselblatt; Florian Emmerich; Toni Cathomen; Rolf Backofen; Paul Fisch; Maximilian Seidl; Annette May; Annette Schmitt-Graeff; Shinji Ikemizu; Ulrich Salzer; Andre Franke; Shimon Sakaguchi
Journal:  Nat Med       Date:  2014-10-20       Impact factor: 53.440

10.  Immune dysregulation, polyendocrinopathy, enteropathy, x-linked syndrome: a paradigm of immunodeficiency with autoimmunity.

Authors:  Federica Barzaghi; Laura Passerini; Rosa Bacchetta
Journal:  Front Immunol       Date:  2012-07-31       Impact factor: 7.561

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  3 in total

1.  In situ conversion of defective Treg into SuperTreg cells to treat advanced IPEX-like disorders in mice.

Authors:  Yongqin Li; Yuxin Chen; Shaoshuai Mao; Ravinder Kaundal; Zhengyu Jing; Qin Chen; Xinxin Wang; Jing Xia; Dahai Liu; Jianlong Sun; Haopeng Wang; Tian Chi
Journal:  Nat Commun       Date:  2020-06-03       Impact factor: 14.919

2.  Identification of Immune-Related Genes Associated With Bladder Cancer Based on Immunological Characteristics and Their Correlation With the Prognosis.

Authors:  Zhen Kang; Wei Li; Yan-Hong Yu; Meng Che; Mao-Lin Yang; Jin-Jun Len; Yue-Rong Wu; Jun-Feng Yang
Journal:  Front Genet       Date:  2021-11-26       Impact factor: 4.599

3.  Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study.

Authors:  Federica Barzaghi; Laura Cristina Amaya Hernandez; Benedicte Neven; Silvia Ricci; Zeynep Yesim Kucuk; Jack J Bleesing; Zohreh Nademi; Mary Anne Slatter; Erlinda Rose Ulloa; Anna Shcherbina; Anna Roppelt; Austen Worth; Juliana Silva; Alessandro Aiuti; Luis Murguia-Favela; Carsten Speckmann; Magda Carneiro-Sampaio; Juliana Folloni Fernandes; Safa Baris; Ahmet Ozen; Elif Karakoc-Aydiner; Ayca Kiykim; Ansgar Schulz; Sandra Steinmann; Lucia Dora Notarangelo; Eleonora Gambineri; Paolo Lionetti; William Thomas Shearer; Lisa R Forbes; Caridad Martinez; Despina Moshous; Stephane Blanche; Alain Fisher; Frank M Ruemmele; Come Tissandier; Marie Ouachee-Chardin; Frédéric Rieux-Laucat; Marina Cavazzana; Waseem Qasim; Barbarella Lucarelli; Michael H Albert; Ichiro Kobayashi; Laura Alonso; Cristina Diaz De Heredia; Hirokazu Kanegane; Anita Lawitschka; Jong Jin Seo; Marta Gonzalez-Vicent; Miguel Angel Diaz; Rakesh Kumar Goyal; Martin G Sauer; Akif Yesilipek; Minsoo Kim; Yesim Yilmaz-Demirdag; Monica Bhatia; Julie Khlevner; Erick J Richmond Padilla; Silvana Martino; Davide Montin; Olaf Neth; Agueda Molinos-Quintana; Justo Valverde-Fernandez; Arnon Broides; Vered Pinsk; Antje Ballauf; Filomeen Haerynck; Victoria Bordon; Catharina Dhooge; Maria Laura Garcia-Lloret; Robbert G Bredius; Krzysztof Kałwak; Elie Haddad; Markus Gerhard Seidel; Gregor Duckers; Sung-Yun Pai; Christopher C Dvorak; Stephan Ehl; Franco Locatelli; Frederick Goldman; Andrew Richard Gennery; Mort J Cowan; Maria-Grazia Roncarolo; Rosa Bacchetta
Journal:  J Allergy Clin Immunol       Date:  2017-12-11       Impact factor: 10.793

  3 in total

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