Literature DB >> 25724124

Somatic NOD2 mosaicism in Blau syndrome.

Jaime de Inocencio1, Anna Mensa-Vilaro2, Pilar Tejada-Palacios3, Eugenia Enriquez-Merayo1, Eva González-Roca2, Giuliana Magri4, Estibaliz Ruiz-Ortiz2, Andrea Cerutti4, Jordi Yagüe2, Juan I Aróstegui5.   

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Year:  2015        PMID： 25724124      PMCID： PMC4530052          DOI： 10.1016/j.jaci.2014.12.1941

Source DB:  PubMed          Journal:  J Allergy Clin Immunol        ISSN： 0091-6749            Impact factor:   10.793


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  9 in total

1.  NOD2-associated pediatric granulomatous arthritis, an expanding phenotype: study of an international registry and a national cohort in Spain.

Authors:  Carlos D Rosé; Juan I Aróstegui; Tammy M Martin; Graciela Espada; Lisabeth Scalzi; Jordi Yagüe; James T Rosenbaum; Consuelo Modesto; Maria Cristina Arnal; Rosa Merino; Julia García-Consuegra; María Antonia Carballo Silva; Carine H Wouters
Journal:  Arthritis Rheum       Date:  2009-06

Review 2.  A genomic view of mosaicism and human disease.

Authors:  Leslie G Biesecker; Nancy B Spinner
Journal:  Nat Rev Genet       Date:  2013-05       Impact factor: 53.242

3.  High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: results of an International Multicenter Collaborative Study.

Authors:  Naoko Tanaka; Kazushi Izawa; Megumu K Saito; Mio Sakuma; Koichi Oshima; Osamu Ohara; Ryuta Nishikomori; Takeshi Morimoto; Naotomo Kambe; Raphaela Goldbach-Mansky; Ivona Aksentijevich; Geneviève de Saint Basile; Bénédicte Neven; Mariëlle van Gijn; Joost Frenkel; Juan I Aróstegui; Jordi Yagüe; Rosa Merino; Mercedes Ibañez; Alessandra Pontillo; Hidetoshi Takada; Tomoyuki Imagawa; Tomoki Kawai; Takahiro Yasumi; Tatsutoshi Nakahata; Toshio Heike
Journal:  Arthritis Rheum       Date:  2011-11

4.  Activated STING in a vascular and pulmonary syndrome.

Authors:  Y Liu; A A Jesus; B Marrero; Z Deng; M Boehm; A S Paller; D Yang; S E Ramsey; G A Montealegre Sanchez; K Tenbrock; H Wittkowski; O Y Jones; H S Kuehn; C-C R Lee; M A DiMattia; E W Cowen; B Gonzalez; I Palmer; J J DiGiovanna; A Biancotto; H Kim; W L Tsai; A M Trier; Y Huang; D L Stone; S Hill; H J Kim; C St Hilaire; S Gurprasad; N Plass; D Chapelle; I Horkayne-Szakaly; D Foell; A Barysenka; F Candotti; S M Holland; J D Hughes; H Mehmet; A C Issekutz; M Raffeld; J McElwee; J R Fontana; C P Minniti; S Moir; D L Kastner; M Gadina; A C Steven; P T Wingfield; S R Brooks; S D Rosenzweig; T A Fleisher; R Goldbach-Mansky
Journal:  N Engl J Med       Date:  2014-07-16       Impact factor: 91.245

5.  CARD15 mutations in Blau syndrome.

Authors:  C Miceli-Richard; S Lesage; M Rybojad; A M Prieur; S Manouvrier-Hanu; R Häfner; M Chamaillard; H Zouali; G Thomas; J P Hugot
Journal:  Nat Genet       Date:  2001-09       Impact factor: 38.330

6.  Pediatric granulomatous arthritis: an international registry.

Authors:  Carlos D Rosé; Carine H Wouters; Silvia Meiorin; Trudy M Doyle; Michael P Davey; James T Rosenbaum; Tammy M Martin
Journal:  Arthritis Rheum       Date:  2006-10

7.  Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes.

Authors:  Kenji Nakagawa; Eva Gonzalez-Roca; Alejandro Souto; Toshinao Kawai; Hiroaki Umebayashi; Josep María Campistol; Jeronima Cañellas; Syuji Takei; Norimoto Kobayashi; Jose Luis Callejas-Rubio; Norberto Ortego-Centeno; Estíbaliz Ruiz-Ortiz; Fina Rius; Jordi Anton; Estibaliz Iglesias; Santiago Jimenez-Treviño; Carmen Vargas; Julian Fernandez-Martin; Inmaculada Calvo; José Hernández-Rodríguez; María Mendez; María Teresa Dordal; Maria Basagaña; Segundo Bujan; Masato Yashiro; Tetsuo Kubota; Ryuji Koike; Naoko Akuta; Kumiko Shimoyama; Naomi Iwata; Megumu K Saito; Osamu Ohara; Naotomo Kambe; Takahiro Yasumi; Kazushi Izawa; Tomoki Kawai; Toshio Heike; Jordi Yagüe; Ryuta Nishikomori; Juan I Aróstegui
Journal:  Ann Rheum Dis       Date:  2013-12-10       Impact factor: 19.103

8.  Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-kappaB activation: common genetic etiology with Blau syndrome.

Authors:  Nobuo Kanazawa; Ikuo Okafuji; Naotomo Kambe; Ryuta Nishikomori; Mami Nakata-Hizume; Sonoko Nagai; Akihiko Fuji; Takenosuke Yuasa; Akira Manki; Yoshihiko Sakurai; Mitsuru Nakajima; Hiroko Kobayashi; Ikuma Fujiwara; Hiroyuki Tsutsumi; Atsushi Utani; Chikako Nishigori; Toshio Heike; Tatsutoshi Nakahata; Yoshiki Miyachi
Journal:  Blood       Date:  2004-09-30       Impact factor: 22.113

9.  NOD2 gene-associated pediatric granulomatous arthritis: clinical diversity, novel and recurrent mutations, and evidence of clinical improvement with interleukin-1 blockade in a Spanish cohort.

Authors:  Juan I Aróstegui; Cristina Arnal; Rosa Merino; Consuelo Modesto; María Antonia Carballo; Purificación Moreno; Julia García-Consuegra; Antonio Naranjo; Eduardo Ramos; Pilar de Paz; Josefa Rius; Susana Plaza; Jordi Yagüe
Journal:  Arthritis Rheum       Date:  2007-11
  9 in total
  15 in total

1.  An Original Description of Granulomatous Liver Cirrhosis in Blau Syndrome.

Authors:  Angela Cropley; Amir Hadji Ashrafy; Martin Weltman
Journal:  Dig Dis Sci       Date:  2019-06-01       Impact factor: 3.199

Review 2.  Molecular mechanisms of phenotypic variability in monogenic autoinflammatory diseases.

Authors:  Ivona Aksentijevich; Oskar Schnappauf
Journal:  Nat Rev Rheumatol       Date:  2021-05-25       Impact factor: 20.543

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

Authors:  Hal M Hoffman; Lori Broderick
Journal:  Arthritis Rheumatol       Date:  2017-02       Impact factor: 10.995

Review 4.  Update on the Genetics of Autoinflammatory Disorders.

Authors:  Isabelle Jéru
Journal:  Curr Allergy Asthma Rep       Date:  2019-07-18       Impact factor: 4.806

Review 5.  Advances in clinical immunology in 2015.

Authors:  Javier Chinen; Luigi D Notarangelo; William T Shearer
Journal:  J Allergy Clin Immunol       Date:  2016-12       Impact factor: 10.793

Review 6.  Somatic mutations in rheumatological diseases: VEXAS syndrome and beyond.

Authors:  Keith A Sikora; Kristina V Wells; Ertugrul Cagri Bolek; Adrianna I Jones; Peter C Grayson
Journal:  Rheumatology (Oxford)       Date:  2022-08-03       Impact factor: 7.046

Review 7.  Fever tree revisited: From malaria to autoinflammatory diseases.

Authors:  Serena Pastore; Josef Vuch; Anna Monica Bianco; Andrea Taddio; Alberto Tommasini
Journal:  World J Clin Pediatr       Date:  2015-11-08

Review 8.  Monogenic Autoinflammatory Diseases: State of the Art and Future Perspectives.

Authors:  Giulia Di Donato; Debora Mariarita d'Angelo; Luciana Breda; Francesco Chiarelli
Journal:  Int J Mol Sci       Date:  2021-06-14       Impact factor: 5.923

9.  Acquired familial Mediterranean fever associated with a somatic MEFV mutation in a patient with JAK2 associated post-polycythemia myelofibrosis.

Authors:  Yael Shinar; Tali Tohami; Avi Livneh; Ginette Schiby; Abraham Hirshberg; Meital Nagar; Itamar Goldstein; Rinat Cohen; Olga Kukuy; Ora Shubman; Yehonatan Sharabi; Eva Gonzalez-Roca; Juan I Arostegui; Gideon Rechavi; Ninnette Amariglio; Ophira Salomon
Journal:  Orphanet J Rare Dis       Date:  2015-06-30       Impact factor: 4.123

10.  Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis.

Authors:  Ebun Omoyinmi; Ariane Standing; Annette Keylock; Fiona Price-Kuehne; Sonia Melo Gomes; Dorota Rowczenio; Sira Nanthapisal; Thomas Cullup; Rodney Nyanhete; Emma Ashton; Claire Murphy; Megan Clarke; Helena Ahlfors; Lucy Jenkins; Kimberly Gilmour; Despina Eleftheriou; Helen J Lachmann; Philip N Hawkins; Nigel Klein; Paul A Brogan
Journal:  PLoS One       Date:  2017-07-27       Impact factor: 3.240
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