Off-label use of canakinumab in pediatric rheumatology and rare diseases

E Del Giudice, J Sota, F Orlando, L Picciano… - Frontiers in …, 2022 - frontiersin.org
Since the first success of interleukin-1 blockade in cryopyrin-associated periodic syndrome,
the use of interleukin-1 inhibitors has expanded to other disorders, including off-label …

Febrile children with breaches in the responses of innate immunity

D Rigante - Expert Review of Clinical Immunology, 2023 - Taylor & Francis
The innate immune system is a hushed stronghold that protects living beings from microbial
pathogens, damaged tissue, biochemical stress, dysmetabolism, or dysbiosis by means of …

The GAIN registry—a new prospective study for patients with multi-organ autoimmunity and autoinflammation

P Staus, S Rusch, S El-Helou, G Müller… - Journal of Clinical …, 2023 - Springer
Patient registries are a very important and essential tool for investigating rare diseases, as
most physicians only see a limited number of cases during their career. Diseases of multi …

Risk for cancer development in familial Mediterranean fever and associated predisposing factors: an ambidirectional cohort study from the international AIDA Network …

A Vitale, V Caggiano, A Tufan, G Ragab… - Frontiers in …, 2024 - frontiersin.org
Objective Inflammation has been associated with an increased risk for cancer development,
while innate immune system activation could counteract the risk for malignancies. Familial …

Quality of life in monogenic autoinflammatory diseases. A review

I Touitou, E Jéziorski, A Al-Saleh, A Carbasse, M Piram - Joint Bone Spine, 2023 - Elsevier
Abstract Background Systemic autoinflammatory diseases (SAIDs) are a group of disorders
related to defective regulation of the innate immune system. Recurrence of inflammation can …

Knowledge and Current Practices in Monogenic Uveitis: An International Survey by IUSG and AIDA Network

C Gaggiano, V Gupta, R Agrawal, MD De Smet… - Ophthalmology and …, 2024 - Springer
Introduction This study aims to explore awareness, knowledge, and diagnostic/therapeutic
practices in monogenic uveitis (mU) among uveitis experts. Methods This is an explorative …

[PDF][PDF] Effects of interleukin-1 antagonists on de novo and pre-existing damage in patients with familial Mediterranean fever

D Yildirim, B Ozkiziltas, I Vasi, H Karadeniz… - Clin Exp …, 2023 - clinexprheumatol.org
Objective Colchicine is the mainstay of familial Mediterranean fever treatment and
interleukin (IL-1) antagonists are the treatment of choice in resistant patients. We aimed to …

Increase in pediatric recurrent fever evaluations during the first year of the COVID-19 pandemic in North America

LM Mansfield, SK Lapidus, SN Romero… - Frontiers in …, 2023 - frontiersin.org
The impact of the COVID-19 pandemic on new diagnoses of recurrent fevers and
autoinflammatory diseases is largely unknown. The Childhood Arthritis and Rheumatology …

Cohort-driven variant burden analysis and pathogenicity identification in monogenic autoinflammatory disorders

X Chen, X Yu - Journal of Allergy and Clinical Immunology, 2023 - Elsevier
Background Nearly 50 pathogenic genes and hundreds of pathogenic variants have been
identified in monogenic autoinflammatory diseases (AIDs). Nonetheless, there are still many …

VEXAS syndrome: Current clinical, diagnostic and treatment approaches

S Kobak - Intractable & Rare Diseases Research, 2023 - jstage.jst.go.jp
VEXAS syndrome, is a hemato-inflammatory chronic disease characterized with
predominantly rheumatic and hematologic systemic involvement. It was first described in …