Literature DB >> 26584874

Failure to thrive, interstitial lung disease, and progressive digital necrosis with onset in infancy.

Justin Chia1, Fehime Kara Eroglu2, Seza Özen2, Dicle Orhan3, Gina Montealegre-Sanchez4, Adriana A de Jesus4, Raphaela Goldbach-Mansky4, Edward W Cowen5.   

Abstract

Key teaching points • SAVI is a recently described interferonopathy resulting from constitutive action of STING and up-regulation of IFN-β signaling. • SAVI is characterized by facial erythema with telangiectasia, acral/cold-sensitive tissue ulceration and amputations, and interstitial lung disease. It has overlapping features with Aicardi-Goutières syndrome and familial chilblain lupus. • Traditional immunosuppressive medications and biologic therapies appear to be of limited benefit, but JAK inhibitors may impact disease progression. Published by Elsevier Inc.

Entities:  

Keywords:  autoinflammation; autoinflammatory; gangrene; genodermatosis; inflammation; interferonopathy; interstitial lung disease; vasculitis

Mesh：

Substances：

Year:  2015        PMID： 26584874      PMCID： PMC4691417          DOI： 10.1016/j.jaad.2015.10.007

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


  5 in total

1.  Stimulator of Interferon Genes-Associated Vasculopathy With Onset in Infancy: A Mimic of Childhood Granulomatosis With Polyangiitis.

Authors:  Justine Munoz; Michel Rodière; Nadia Jeremiah; Frédéric Rieux-Laucat; Anthony Oojageer; Gillian I Rice; Flore Rozenberg; Yanick J Crow; Didier Bessis
Journal:  JAMA Dermatol       Date:  2015-08       Impact factor: 10.282

2.  STING-associated vasculopathy with onset in infancy--a new interferonopathy.

Authors:  Yanick J Crow; Jean-Laurent Casanova
Journal:  N Engl J Med       Date:  2014-07-16       Impact factor: 91.245

3.  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

Review 4.  Update on genetics and pathogenesis of autoinflammatory diseases: the last 2 years.

Authors:  Ivona Aksentijevich
Journal:  Semin Immunopathol       Date:  2015-04-10       Impact factor: 9.623

5.  Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations.

Authors:  Nadia Jeremiah; Bénédicte Neven; Matteo Gentili; Isabelle Callebaut; Sophia Maschalidi; Marie-Claude Stolzenberg; Nicolas Goudin; Marie-Louis Frémond; Patrick Nitschke; Thierry J Molina; Stéphane Blanche; Capucine Picard; Gillian I Rice; Yanick J Crow; Nicolas Manel; Alain Fischer; Brigitte Bader-Meunier; Frédéric Rieux-Laucat
Journal:  J Clin Invest       Date:  2014-11-17       Impact factor: 14.808
  5 in total
  18 in total

1.  Hierarchy of clinical manifestations in SAVI N153S and V154M mouse models.

Authors:  Mona Motwani; Sudesh Pawaria; Jennifer Bernier; Stephanie Moses; Kate Henry; Terry Fang; Linda Burkly; Ann Marshak-Rothstein; Katherine A Fitzgerald
Journal:  Proc Natl Acad Sci U S A       Date:  2019-04-03       Impact factor: 11.205

Review 2.  What's new in autoinflammation?

Authors:  Seza Ozen
Journal:  Pediatr Nephrol       Date:  2018-12-14       Impact factor: 3.714

Review 3.  Insights from Mendelian Interferonopathies: Comparison of CANDLE, SAVI with AGS, Monogenic Lupus.

Authors:  Hanna Kim; Gina A Montealegre Sanchez; Raphaela Goldbach-Mansky
Journal:  J Mol Med (Berl)       Date:  2016-09-27       Impact factor: 4.599

4.  The Challenge of Diagnosing SAVI: Case Studies.

Authors:  Yao Cao; Li-Ping Jiang
Journal:  Pediatr Allergy Immunol Pulmonol       Date:  2019-12-11       Impact factor: 1.349

Review 5.  STING-Mediated Lung Inflammation and Beyond.

Authors:  Marie-Louise Frémond; Yanick J Crow
Journal:  J Clin Immunol       Date:  2021-02-02       Impact factor: 8.317

6.  STING-Associated Vasculopathy with Onset in Infancy in Three Children with New Clinical Aspect and Unsatisfactory Therapeutic Responses to Tofacitinib.

Authors:  Xiaolei Tang; Hui Xu; Chunju Zhou; Yun Peng; Hui Liu; Jinrong Liu; Huimin Li; Haiming Yang; Shunying Zhao
Journal:  J Clin Immunol       Date:  2019-11-08       Impact factor: 8.542

7.  Dysbiosis exacerbates colitis by promoting ubiquitination and accumulation of the innate immune adaptor STING in myeloid cells.

Authors:  Liraz Shmuel-Galia; Fiachra Humphries; Xuqiu Lei; Simona Ceglia; Ruth Wilson; Zhaozhao Jiang; Natalia Ketelut-Carneiro; Sage E Foley; Susanne Pechhold; JeanMarie Houghton; Khaja Muneeruddin; Scott A Shaffer; Beth A McCormick; Andrea Reboldi; Doyle Ward; Ann Marshak-Rothstein; Katherine A Fitzgerald
Journal:  Immunity       Date:  2021-05-28       Impact factor: 43.474

Review 8.  Vasculitis and vasculitis-like manifestations in monogenic autoinflammatory syndromes.

Authors:  Avinash Jain; Durga Prasanna Misra; Aman Sharma; Anupam Wakhlu; Vikas Agarwal; Vir Singh Negi
Journal:  Rheumatol Int       Date:  2017-10-14       Impact factor: 3.580

Review 9.  Lung Involvement in Children with Hereditary Autoinflammatory Disorders.

Authors:  Giusyda Tarantino; Susanna Esposito; Laura Andreozzi; Benedetta Bracci; Francesca D'Errico; Donato Rigante
Journal:  Int J Mol Sci       Date:  2016-12-15       Impact factor: 5.923

Review 10.  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
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