Literature DB >> 27748054

Editorial: It Just Takes One: Somatic Mosaicism in Autoinflammatory Disease.

Hal M Hoffman1, Lori Broderick1.   

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Year:  2017        PMID： 27748054      PMCID： PMC5538189          DOI： 10.1002/art.39961

Source DB:  PubMed          Journal:  Arthritis Rheumatol        ISSN： 2326-5191            Impact factor:   10.995


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  13 in total

1.  Induced pluripotent stem cells from CINCA syndrome patients as a model for dissecting somatic mosaicism and drug discovery.

Authors:  Takayuki Tanaka; Kazutoshi Takahashi; Mayu Yamane; Shota Tomida; Saori Nakamura; Koichi Oshima; Akira Niwa; Ryuta Nishikomori; Naotomo Kambe; Hideki Hara; Masao Mitsuyama; Nobuhiro Morone; John E Heuser; Takuya Yamamoto; Akira Watanabe; Aiko Sato-Otsubo; Seishi Ogawa; Isao Asaka; Toshio Heike; Shinya Yamanaka; Tatsutoshi Nakahata; Megumu K Saito
Journal:  Blood       Date:  2012-06-21       Impact factor: 22.113

2.  Brief Report: Late-Onset Cryopyrin-Associated Periodic Syndrome Due to Myeloid-Restricted Somatic NLRP3 Mosaicism.

Authors:  Anna Mensa-Vilaro; María Teresa Bosque; Giuliana Magri; Yoshitaka Honda; Helios Martínez-Banaclocha; Marta Casorran-Berges; Jordi Sintes; Eva González-Roca; Estibaliz Ruiz-Ortiz; Toshio Heike; Juan J Martínez-Garcia; Alberto Baroja-Mazo; Andrea Cerutti; Ryuta Nishikomori; Jordi Yagüe; Pablo Pelegrín; Concha Delgado-Beltran; Juan I Aróstegui
Journal:  Arthritis Rheumatol       Date:  2016-12       Impact factor: 10.995

3.  Myeloid lineage-restricted somatic mosaicism of NLRP3 mutations in patients with variant Schnitzler syndrome.

Authors:  Heleen D de Koning; Mariëlle E van Gijn; Monique Stoffels; Johanna Jongekrijg; Patrick L J M Zeeuwen; Martin G Elferink; Isaac J Nijman; Patrick A M Jansen; Kornelia Neveling; Jos W M van der Meer; Joost Schalkwijk; Anna Simon
Journal:  J Allergy Clin Immunol       Date:  2014-09-16       Impact factor: 10.793

4.  Brief Report: Cryopyrin-Associated Periodic Syndrome Caused by a Myeloid-Restricted Somatic NLRP3 Mutation.

Authors:  Qing Zhou; Ivona Aksentijevich; Geryl M Wood; Avram D Walts; Patrycja Hoffmann; Elaine F Remmers; Daniel L Kastner; Amanda K Ombrello
Journal:  Arthritis Rheumatol       Date:  2015-09       Impact factor: 10.995

5.  Brief Report: Association of Tumor Necrosis Factor Receptor-Associated Periodic Syndrome With Gonosomal Mosaicism of a Novel 24-Nucleotide TNFRSF1A Deletion.

Authors:  Dorota M Rowczenio; Hadija Trojer; Ebun Omoyinmi; Juan I Aróstegui; Grigor Arakelov; Anna Mensa-Vilaro; Anna Baginska; Caroline Silva Pilorz; Guosu Wang; Thirusha Lane; Paul Brogan; Philip N Hawkins; Helen J Lachmann
Journal:  Arthritis Rheumatol       Date:  2016-08       Impact factor: 10.995

6.  Brief Report: First Identification of Intrafamilial Recurrence of Blau Syndrome due to Gonosomal NOD2 Mosaicism.

Authors:  Anna Mensa-Vilaro; Weng Tarng Cham; Swee Ping Tang; Sern Chin Lim; Eva González-Roca; Estibaliz Ruiz-Ortiz; Roziana Ariffin; Jordi Yagüe; Juan I Aróstegui
Journal:  Arthritis Rheumatol       Date:  2016-04       Impact factor: 10.995

Review 7.  The role of the inflammasome in patients with autoinflammatory diseases.

Authors:  Hal M Hoffman; Lori Broderick
Journal:  J Allergy Clin Immunol       Date:  2016-05-17       Impact factor: 10.793

Review 8.  Somatic mosaicism in the human genome.

Authors:  Donald Freed; Eric L Stevens; Jonathan Pevsner
Journal:  Genes (Basel)       Date:  2014-12-11       Impact factor: 4.096

9.  An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome.

Authors:  Scott W Canna; Adriana A de Jesus; Sushanth Gouni; Stephen R Brooks; Bernadette Marrero; Yin Liu; Michael A DiMattia; Kristien J M Zaal; Gina A Montealegre Sanchez; Hanna Kim; Dawn Chapelle; Nicole Plass; Yan Huang; Alejandro V Villarino; Angelique Biancotto; Thomas A Fleisher; Joseph A Duncan; John J O'Shea; Susanne Benseler; Alexei Grom; Zuoming Deng; Ronald M Laxer; Raphaela Goldbach-Mansky
Journal:  Nat Genet       Date:  2014-09-14       Impact factor: 38.330

10.  Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation.

Authors:  Neil Romberg; Khatoun Al Moussawi; Carol Nelson-Williams; Amy L Stiegler; Erin Loring; Murim Choi; John Overton; Eric Meffre; Mustafa K Khokha; Anita J Huttner; Brian West; Nikolai A Podoltsev; Titus J Boggon; Barbara I Kazmierczak; Richard P Lifton
Journal:  Nat Genet       Date:  2014-09-14       Impact factor: 38.330
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  9 in total

1.  Late-onset TNF receptor-associated periodic syndrome presenting as recurrent urticarial rash and lymph nodes.

Authors:  Halil Yildiz; Stoian Ioana Andreea; Diane Declaye; Jean Cyr Yombi
Journal:  BMJ Case Rep       Date:  2018-06-27

Review 2.  Monogenic autoinflammatory disorders: Conceptual overview, phenotype, and clinical approach.

Authors:  Peter A Nigrovic; Pui Y Lee; Hal M Hoffman
Journal:  J Allergy Clin Immunol       Date:  2020-11       Impact factor: 10.793

Review 3.  Geoepidemiology and Immunologic Features of Autoinflammatory Diseases: a Comprehensive Review.

Authors:  Yvan Jamilloux; Alexandre Belot; Flora Magnotti; Sarah Benezech; Mathieu Gerfaud-Valentin; Emilie Bourdonnay; Thierry Walzer; Pascal Sève; Thomas Henry
Journal:  Clin Rev Allergy Immunol       Date:  2018-06       Impact factor: 8.667

Review 4.  Unravelling the Roles of Susceptibility Loci for Autoimmune Diseases in the Post-GWAS Era.

Authors:  Jody Ye; Kathleen M Gillespie; Santiago Rodriguez
Journal:  Genes (Basel)       Date:  2018-07-27       Impact factor: 4.096

Review 5.  Revisiting TNF Receptor-Associated Periodic Syndrome (TRAPS): Current Perspectives.

Authors:  Cornelia Cudrici; Natalie Deuitch; Ivona Aksentijevich
Journal:  Int J Mol Sci       Date:  2020-05-05       Impact factor: 5.923

Review 6.  Diagnosis and Management of the Cryopyrin-Associated Periodic Syndromes (CAPS): What Do We Know Today?

Authors:  Tatjana Welzel; Jasmin B Kuemmerle-Deschner
Journal:  J Clin Med       Date:  2021-01-01       Impact factor: 4.241

7.  Systemic autoinflammatory diseases in pediatric population.

Authors:  Maria Luís Marques; Inês Machado Cunha; Sérgio Alves; Margarida Guedes; Carla Zilhão
Journal:  Asia Pac Allergy       Date:  2022-07-18

8.  Diagnostic Criteria for Adult-Onset Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis (PFAPA) Syndrome.

Authors:  Luca Cantarini; Antonio Vitale; Ludovico Luca Sicignano; Giacomo Emmi; Elena Verrecchia; Isabella Patisso; Lucia Cerrito; Claudia Fabiani; Gabriele Cevenini; Bruno Frediani; Mauro Galeazzi; Donato Rigante; Raffaele Manna
Journal:  Front Immunol       Date:  2017-08-24       Impact factor: 7.561

9.  Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease.

Authors:  David B Beck; Marcela A Ferrada; Keith A Sikora; Amanda K Ombrello; Jason C Collins; Wuhong Pei; Nicholas Balanda; Daron L Ross; Daniela Ospina Cardona; Zhijie Wu; Bhavisha Patel; Kalpana Manthiram; Emma M Groarke; Fernanda Gutierrez-Rodrigues; Patrycja Hoffmann; Sofia Rosenzweig; Shuichiro Nakabo; Laura W Dillon; Christopher S Hourigan; Wanxia L Tsai; Sarthak Gupta; Carmelo Carmona-Rivera; Anthony J Asmar; Lisha Xu; Hirotsugu Oda; Wendy Goodspeed; Karyl S Barron; Michele Nehrebecky; Anne Jones; Ryan S Laird; Natalie Deuitch; Dorota Rowczenio; Emily Rominger; Kristina V Wells; Chyi-Chia R Lee; Weixin Wang; Megan Trick; James Mullikin; Gustaf Wigerblad; Stephen Brooks; Stefania Dell'Orso; Zuoming Deng; Jae J Chae; Alina Dulau-Florea; May C V Malicdan; Danica Novacic; Robert A Colbert; Mariana J Kaplan; Massimo Gadina; Sinisa Savic; Helen J Lachmann; Mones Abu-Asab; Benjamin D Solomon; Kyle Retterer; William A Gahl; Shawn M Burgess; Ivona Aksentijevich; Neal S Young; Katherine R Calvo; Achim Werner; Daniel L Kastner; Peter C Grayson
Journal:  N Engl J Med       Date:  2020-10-27       Impact factor: 91.245
  9 in total

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