Cinar, Ovgu Kul;
Romano, Micol;
Guzel, Ferhat;
Brogan, Paul A;
Demirkaya, Erkan;
(2022)
Paediatric Behcet's Disease: A Comprehensive Review with an Emphasis on Monogenic Mimics.
Journal of Clinical Medicine
, 11
(5)
, Article 1278. 10.3390/jcm11051278.
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Abstract
Behçet’s disease (BD) is a polygenic condition with a complex immunopathogenetic background and challenging diagnostic and therapeutic concepts. Advances in genomic medicine have provided intriguing insights into disease pathogenesis over the last decade, especially into monogenic mimics of BD. Although a rare condition, paediatric BD should be considered an important differential diagnosis, especially in cases with similar phenotypes. Emerging reports of monogenic mimics have indicated the importance of genetic testing, particularly for those with early-onset, atypical features and familial aggregation. Treatment options ought to be evaluated in a multidisciplinary setting, given the complexity and diverse organ involvement. Owing to the rarity of the condition, there is a paucity of paediatric trials; thus, international collaboration is warranted to provide consensus recommendations for the management of children and young people. Herein, we summarise the current knowledge of the clinical presentation, immunopathogenetic associations and disease mechanisms in patients with paediatric BD and BD-related phenotypes, with particular emphasis on recently identified monogenic mimics.
| Type: | Article |
|---|---|
| Title: | Paediatric Behcet's Disease: A Comprehensive Review with an Emphasis on Monogenic Mimics |
| Location: | Switzerland |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.3390/jcm11051278 |
| Language: | English |
| Additional information: | This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third-party material in this article are included in the Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ |
| Keywords: | Science & Technology, Life Sciences & Biomedicine, Medicine, General & Internal, General & Internal Medicine, A20 haploinsufficiency, Behcet's disease, inflammatory vasculitis, monogenic mimics, next-generation sequencing, NF-kappa B pathway, paediatric Behcet's, whole-exome sequencing, GENOME-WIDE ASSOCIATION, FAMILIAL MEDITERRANEAN FEVER, DAGGER-ETS DISEASE, MHC CLASS-I, CLINICAL-FEATURES, CLASSIFICATION CRITERIA, INCONTINENTIA PIGMENTI, SUSCEPTIBILITY LOCI, PFAPA SYNDROME, NEURO-BEHCET |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Infection, Immunity and Inflammation Dept UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10148385 |
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