A20 haploinsufficiency (HA20): clinical phenotypes and disease course of patients with a newly recognised NF-kB-mediated autoinflammatory disease
FA Aeschlimann, ED Batu, SW Canna, E Go… - Annals of the …, 2018 - ard.bmj.com
Objectives The association between mutations in TNFAIP3, encoding the NF-kB regulatory
protein A20, and a new autoinflammatory disease has recently been recognised. This study …
protein A20, and a new autoinflammatory disease has recently been recognised. This study …
A child with severe juvenile dermatomyositis treated with ruxolitinib
FA Aeschlimann, ML Frémond, D Duffy, GI Rice… - Brain, 2018 - academic.oup.com
Sir, We read with interest the article by Ladislau et al.(2018), highlighting the key role of type
I interferon (IFN) in the pathophysiology of the muscle disease observed in dermatomyositis …
I interferon (IFN) in the pathophysiology of the muscle disease observed in dermatomyositis …
[HTML][HTML] Myocardial involvement in children with post-COVID multisystem inflammatory syndrome: a cardiovascular magnetic resonance based multicenter …
FA Aeschlimann, N Misra, T Hussein, E Panaioli… - Journal of …, 2021 - Elsevier
… Author links open overlay panel Florence A. Aeschlimann 1 , Nilanjana Misra 2 , Tarique
Hussein 3 , Elena Panaioli 4 5 , Jonathan H. Soslow 6 , Kimberly Crum 6 , Jeremy M. Steele 7 , …
Hussein 3 , Elena Panaioli 4 5 , Jonathan H. Soslow 6 , Kimberly Crum 6 , Jeremy M. Steele 7 , …
[HTML][HTML] Childhood Takayasu arteritis: disease course and response to therapy
FA Aeschlimann, SWM Eng, S Sheikh… - Arthritis Research & …, 2017 - Springer
Background Takayasu arteritis (TAK) is a large vessel vasculitis that rarely affects children.
Data on childhood TAK are scarce. The aim of this study was to analyze the presenting …
Data on childhood TAK are scarce. The aim of this study was to analyze the presenting …
Presentation and disease course of childhood‐onset versus adult‐onset Takayasu arteritis
FA Aeschlimann, L Barra, R Alsolaimani… - Arthritis & …, 2019 - Wiley Online Library
… Aeschlimann's work was supported by the Rhyner-Bangerter Foundation, Starr Foundation,
Swiss League Against Rheumatism, Foundation W!, Alberta Children's Hospital Research …
Swiss League Against Rheumatism, Foundation W!, Alberta Children's Hospital Research …
[HTML][HTML] Patterns of joint involvement in juvenile idiopathic arthritis and prediction of disease course: a prospective study with multilayer non-negative matrix …
SWM Eng, FA Aeschlimann, M Van Veenendaal… - PLoS …, 2019 - journals.plos.org
Background Joint inflammation is the common feature underlying juvenile idiopathic arthritis
(JIA). Clinicians recognize patterns of joint involvement currently not part of the International …
(JIA). Clinicians recognize patterns of joint involvement currently not part of the International …
[HTML][HTML] Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity
…, C Wouters, B Bader-Meunier, FA Aeschlimann… - Journal of Allergy and …, 2022 - Elsevier
Background Accurate, detailed, and standardized phenotypic descriptions are essential to
support diagnostic interpretation of genetic variants and to discover new diseases. The …
support diagnostic interpretation of genetic variants and to discover new diseases. The …
[HTML][HTML] An update on childhood-onset Takayasu arteritis
Takayasu Arteritis (TAK) is a rare large vessel vasculitis affecting the aorta and its major
branches. The heterogeneous and often severe clinical manifestations result from systemic and …
branches. The heterogeneous and often severe clinical manifestations result from systemic and …
Outcomes of SARS-CoV-2 infection among children and young people with pre-existing rheumatic and musculoskeletal diseases
…, N Švestková, A Belot, FA Aeschlimann… - Annals of the …, 2022 - ard.bmj.com
Objectives Some adults with rheumatic and musculoskeletal diseases (RMDs) are at
increased risk of COVID-19-related death. Excluding post-COVID-19 multisystem inflammatory …
increased risk of COVID-19-related death. Excluding post-COVID-19 multisystem inflammatory …
[HTML][HTML] Childhood-onset Takayasu arteritis
FA Aeschlimann, M Twilt… - European Journal of …, 2020 - ncbi.nlm.nih.gov
Childhood-onset Takayasu Arteritis (cTAK) is a rare, large-vessel type of vasculitis seen in
children, mainly affecting the aorta and its major branches. Clinical manifestations are often …
children, mainly affecting the aorta and its major branches. Clinical manifestations are often …