Literature DB >> 30205133

Recurrent fevers, progressive lipodystrophy, and annular plaques in a child.

Michael A Cardis1, Gina A Montealegre Sanchez2, Raphaela Goldbach-Mansky2, Chyi-Chia Richard Lee3, Edward W Cowen4.   

Abstract

KEY TEACHING POINTS. Published by Elsevier Inc.

Entities:  

Keywords:  CANDLE; autoinflammatory; genodermatosis; interferonopathy; lipodystrophy; neutrophilic dermatosis; proteasome

Mesh：

Year:  2018        PMID： 30205133      PMCID： PMC8132105          DOI： 10.1016/j.jaad.2018.08.043

Source DB:  PubMed          Journal:  J Am Acad Dermatol        ISSN： 0190-9622            Impact factor:   11.527


  15 in total

1.  Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity.

Authors:  Yin Liu; Yuval Ramot; Antonio Torrelo; Amy S Paller; Nuo Si; Sofia Babay; Peter W Kim; Afzal Sheikh; Chyi-Chia Richard Lee; Yongqing Chen; Angel Vera; Xue Zhang; Raphaela Goldbach-Mansky; Abraham Zlotogorski
Journal:  Arthritis Rheum       Date:  2012-03

2.  Immunoproteasomes preserve protein homeostasis upon interferon-induced oxidative stress.

Authors:  Ulrike Seifert; Lukasz P Bialy; Frédéric Ebstein; Dawadschargal Bech-Otschir; Antje Voigt; Friederike Schröter; Timour Prozorovski; Nicole Lange; Janos Steffen; Melanie Rieger; Ulrike Kuckelkorn; Orhan Aktas; Peter-M Kloetzel; Elke Krüger
Journal:  Cell       Date:  2010-08-20       Impact factor: 41.582

3.  Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome: a case report.

Authors:  Yuval Ramot; Tali Czarnowicki; Alex Maly; Paulina Navon-Elkan; Abraham Zlotogorski
Journal:  Pediatr Dermatol       Date:  2010-06-09       Impact factor: 1.588

4.  Rash, Fever, and Pulmonary Hypertension in a 6-Year-Old Female.

Authors:  David Buchbinder; Gina A Montealegre Sanchez; Raphaela Goldbach-Mansky; Hermine Brunner; Andrew I Shulman
Journal:  Arthritis Care Res (Hoboken)       Date:  2018-04-02       Impact factor: 4.794

5.  Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome.

Authors:  Antonio Torrelo; Sapna Patel; Isabel Colmenero; Dolores Gurbindo; Francisco Lendínez; Angela Hernández; Juan Carlos López-Robledillo; Ali Dadban; Luis Requena; Amy S Paller
Journal:  J Am Acad Dermatol       Date:  2010-03       Impact factor: 11.527

6.  Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production.

Authors:  Anja Brehm; Yin Liu; Afzal Sheikh; Bernadette Marrero; Ebun Omoyinmi; Qing Zhou; Gina Montealegre; Angelique Biancotto; Adam Reinhardt; Adriana Almeida de Jesus; Martin Pelletier; Wanxia L Tsai; Elaine F Remmers; Lela Kardava; Suvimol Hill; Hanna Kim; Helen J Lachmann; Andre Megarbane; Jae Jin Chae; Jilian Brady; Rhina D Castillo; Diane Brown; Angel Vera Casano; Ling Gao; Dawn Chapelle; Yan Huang; Deborah Stone; Yongqing Chen; Franziska Sotzny; Chyi-Chia Richard Lee; Daniel L Kastner; Antonio Torrelo; Abraham Zlotogorski; Susan Moir; Massimo Gadina; Phil McCoy; Robert Wesley; Kristina I Rother; Kristina Rother; Peter W Hildebrand; Paul Brogan; Elke Krüger; Ivona Aksentijevich; Raphaela Goldbach-Mansky
Journal:  J Clin Invest       Date:  2015-10-20       Impact factor: 14.808

Review 7.  Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome: a report of a novel mutation and review of the literature.

Authors:  J Kluk; M Rustin; P A Brogan; E Omoyinmi; D M Rowczenio; L C Willcocks; L Melly; H J Lachmann
Journal:  Br J Dermatol       Date:  2014-01       Impact factor: 9.302

8.  Proteasome dysfunction mediates obesity-induced endoplasmic reticulum stress and insulin resistance in the liver.

Authors:  Toshiki Otoda; Toshinari Takamura; Hirofumi Misu; Tsuguhito Ota; Shigeo Murata; Hiroto Hayashi; Hiroaki Takayama; Akihiro Kikuchi; Takehiro Kanamori; Kosuke R Shima; Fei Lan; Takashi Takeda; Seiichiro Kurita; Kazuhide Ishikura; Yuki Kita; Kaito Iwayama; Ken-ichiro Kato; Masafumi Uno; Yumie Takeshita; Miyuki Yamamoto; Kunpei Tokuyama; Shoichi Iseki; Keiji Tanaka; Shuichi Kaneko
Journal:  Diabetes       Date:  2012-12-03       Impact factor: 9.461

Review 9.  Type I interferonopathies in pediatric rheumatology.

Authors:  Stefano Volpi; Paolo Picco; Roberta Caorsi; Fabio Candotti; Marco Gattorno
Journal:  Pediatr Rheumatol Online J       Date:  2016-06-04       Impact factor: 3.054

10.  JAK1/2 inhibition with baricitinib in the treatment of autoinflammatory interferonopathies.

Authors:  Gina A Montealegre Sanchez; Adam Reinhardt; Suzanne Ramsey; Helmut Wittkowski; Philip J Hashkes; Yackov Berkun; Susanne Schalm; Sara Murias; Jason A Dare; Diane Brown; Deborah L Stone; Ling Gao; Thomas Klausmeier; Dirk Foell; Adriana A de Jesus; Dawn C Chapelle; Hanna Kim; Samantha Dill; Robert A Colbert; Laura Failla; Bahar Kost; Michelle O'Brien; James C Reynolds; Les R Folio; Katherine R Calvo; Scott M Paul; Nargues Weir; Alessandra Brofferio; Ariane Soldatos; Angelique Biancotto; Edward W Cowen; John J Digiovanna; Massimo Gadina; Andrew J Lipton; Colleen Hadigan; Steven M Holland; Joseph Fontana; Ahmad S Alawad; Rebecca J Brown; Kristina I Rother; Theo Heller; Kristina M Brooks; Parag Kumar; Stephen R Brooks; Meryl Waldman; Harsharan K Singh; Volker Nickeleit; Maria Silk; Apurva Prakash; Jonathan M Janes; Seza Ozen; Paul G Wakim; Paul A Brogan; William L Macias; Raphaela Goldbach-Mansky
Journal:  J Clin Invest       Date:  2018-06-11       Impact factor: 14.808
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  1 in total

Review 1.  Proteostasis Perturbations and Their Roles in Causing Sterile Inflammation and Autoinflammatory Diseases.

Authors:  Jonas Johannes Papendorf; Elke Krüger; Frédéric Ebstein
Journal:  Cells       Date:  2022-04-22       Impact factor: 7.666
  1 in total

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