Literature DB >> 34636972

[Autoinflammation-A clinical and genetic challenge].

Gerd Horneff1,2, Catharina Schütz3, Angela Rösen-Wolff3.   

Abstract

In the last two decades clinical rheumatological practice has been confronted with a steadily increasing number of autoinflammatory diseases, the immunological pathomechanisms of which have been elucidated and in part can be clinically well classified. Whereas targeted genetic diagnostics previously served to confirm a clinically suspected diagnosis, genetic sequencing technology has much improved and enables a new diagnostic approach via high-throughput sequencing, e.g., panel sequencing, whole exome and whole genome sequencing. Thus, the decision to make a diagnosis clinically and/or genetically, has become a daily challenge. This article contrasts the clinical, immunological and genetic aspects of autoinflammatory diseases.
© 2021. Springer Medizin Verlag GmbH, ein Teil von Springer Nature.

Entities:  

Keywords:  High-throughput sequencing; Next-generation sequencing; Panel sequencing; Whole exome sequencing; Whole genome sequencing

Mesh:

Year:  2021        PMID: 34636972     DOI: 10.1007/s00393-021-01076-2

Source DB:  PubMed          Journal:  Z Rheumatol        ISSN: 0340-1855            Impact factor:   1.372


  19 in total

Review 1.  Autoinflammatory Diseases with Periodic Fevers.

Authors:  Erdal Sag; Yelda Bilginer; Seza Ozen
Journal:  Curr Rheumatol Rep       Date:  2017-07       Impact factor: 4.592

2.  A Disease-associated Mutant of NLRC4 Shows Enhanced Interaction with SUG1 Leading to Constitutive FADD-dependent Caspase-8 Activation and Cell Death.

Authors:  Akhouri Kishore Raghawan; Anand Sripada; Gayathri Gopinath; Pendyala Pushpanjali; Yatender Kumar; Vegesna Radha; Ghanshyam Swarup
Journal:  J Biol Chem       Date:  2016-12-14       Impact factor: 5.157

Review 3.  Monogenic autoimmunity.

Authors:  Mickie H Cheng; Mark S Anderson
Journal:  Annu Rev Immunol       Date:  2012-01-06       Impact factor: 28.527

4.  Autoinflammatory disease reloaded: a clinical perspective.

Authors:  Daniel L Kastner; Ivona Aksentijevich; Raphaela Goldbach-Mansky
Journal:  Cell       Date:  2010-03-19       Impact factor: 41.582

5.  A new autoinflammatory and autoimmune syndrome associated with NLRP1 mutations: NAIAD (NLRP1-associated autoinflammation with arthritis and dyskeratosis).

Authors:  Sylvie Grandemange; Elodie Sanchez; Pascale Louis-Plence; Frédéric Tran Mau-Them; Didier Bessis; Christine Coubes; Eric Frouin; Marieke Seyger; Manon Girard; Jacques Puechberty; Valérie Costes; Michel Rodière; Aurélia Carbasse; Eric Jeziorski; Pierre Portales; Guillaume Sarrabay; Michel Mondain; Christian Jorgensen; Florence Apparailly; Esther Hoppenreijs; Isabelle Touitou; David Geneviève
Journal:  Ann Rheum Dis       Date:  2016-12-13       Impact factor: 19.103

6.  Clinical and transcriptional response to the long-acting interleukin-1 blocker canakinumab in Blau syndrome-related uveitis.

Authors:  Gabriele Simonini; Zhaohui Xu; Roberto Caputo; Cinzia De Libero; Ilaria Pagnini; Virginia Pascual; Rolando Cimaz
Journal:  Arthritis Rheum       Date:  2013-02

7.  A novel Pyrin-Associated Autoinflammation with Neutrophilic Dermatosis mutation further defines 14-3-3 binding of pyrin and distinction to Familial Mediterranean Fever.

Authors:  Fiona Moghaddas; Rafael Llamas; Dominic De Nardo; Helios Martinez-Banaclocha; Juan J Martinez-Garcia; Pablo Mesa-Del-Castillo; Paul J Baker; Vanessa Gargallo; Anna Mensa-Vilaro; Scott Canna; Ian P Wicks; Pablo Pelegrin; Juan I Arostegui; Seth L Masters
Journal:  Ann Rheum Dis       Date:  2017-08-23       Impact factor: 19.103

8.  A proposed classification of the immunological diseases.

Authors:  Dennis McGonagle; Michael F McDermott
Journal:  PLoS Med       Date:  2006-08       Impact factor: 11.069

9.  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

10.  Expanding the phenotype of COPA syndrome: a kindred with typical and atypical features.

Authors:  Angelo M Taveira-DaSilva; Thomas C Markello; Bernadette R Gochuico; Joel Moss; David E Kleiner; Amanda M Jones; Catherine Groden; Ellen Macnamara; Tadafumi Yokoyama; William A Gahl
Journal:  J Med Genet       Date:  2018-11-01       Impact factor: 6.318

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