The 2022 EULAR/ACR points to consider at the early stages of diagnosis and management of suspected haemophagocytic lymphohistiocytosis/macrophage …
B Shakoory, A Geerlinks, M Wilejto, K Kernan… - Annals of the …, 2023 - ard.bmj.com
Objective Haemophagocytic lymphohistiocytosis (HLH) and macrophage activation
syndrome (MAS) are life-threatening systemic hyperinflammatory syndromes that can …
syndrome (MAS) are life-threatening systemic hyperinflammatory syndromes that can …
Intracellular sensing of DNA in autoinflammation and autoimmunity
S MacLauchlan, KA Fitzgerald… - Arthritis & …, 2022 - Wiley Online Library
Evidence has shown that DNA is a pathogen‐associated molecular pattern, posing a unique
challenge in the discrimination between endogenous and foreign DNA. This challenge is …
challenge in the discrimination between endogenous and foreign DNA. This challenge is …
Hematologic abnormalities in Aicardi Goutières syndrome
LA Adang, F Gavazzi, R D'Aiello, D Isaacs… - Molecular genetics and …, 2022 - Elsevier
Background Because of the broad clinical spectrum, heritable autoinflammatory diseases
present a management and therapeutic challenge. The most common genetic …
present a management and therapeutic challenge. The most common genetic …
Systemic complications of Aicardi Goutières syndrome using real-world data
IP de Barcelos, AK Jan, N Modesti, S Woidill… - Molecular Genetics and …, 2024 - Elsevier
Abstract Objective Aicardi Goutières Syndrome (AGS) is a rare genetic interferonopathy
associated with diverse multisystemic complications. A critical gap exists in our …
associated with diverse multisystemic complications. A critical gap exists in our …
[HTML][HTML] Ocular complications of SAVI: A unique case of bilateral uveitis and retinal vasculitis
M Menean, A Marchese, G Modorati, R Favale… - American Journal of …, 2024 - Elsevier
Purpose To describe a case of bilateral panuveitis in a patient with Stimulator of Interferon
Genes (STING)-Associated Vasculitis with Onset in Infancy (SAVI). Observations A 45-year …
Genes (STING)-Associated Vasculitis with Onset in Infancy (SAVI). Observations A 45-year …