New monogenic autoinflammatory diseases—a clinical overview

SW Canna, R Goldbach-Mansky - Seminars in immunopathology, 2015 - Springer
Translating pathogenic insights gained from monogenic defects that cause autoinflammatory
diseases into novel therapies has dramatically improved the lives of patients with these …

Inflammasomes and childhood autoimmune diseases: a review of current knowledge

CA Yang, BL Chiang - Clinical Reviews in Allergy & Immunology, 2021 - Springer
Inflammasomes are multiprotein complexes capable of sensing pathogen-associated
molecular patterns (PAMPs), danger-associated molecular patterns (DAMPs), and cellular …

Standard and increased canakinumab dosing to quiet macrophage activation syndrome in children with systemic juvenile idiopathic arthritis

MM Kostik, EA Isupova, K Belozerov… - Frontiers in …, 2022 - frontiersin.org
Objective Macrophage activation syndrome (MAS) is a life-threatening, potentially fatal
condition associated with systemic juvenile idiopathic arthritis (sJIA). Interleukin-1 (IL-1) is a …

Characteristics and risk factors of relapses in patients with adult-onset Still's disease: a long-term cohort study

J Meng, H Chi, Z Wang, H Zhang, Y Sun, J Teng… - …, 2021 - academic.oup.com
Objectives To describe the detailed characteristics and explore the potential risk factors of
relapses in patients with adult-onset Still's disease (AOSD). Methods We enrolled patients …

A multicenter study of patients with multisystem Langerhans cell histiocytosis who develop secondary hemophagocytic lymphohistiocytosis

D Chellapandian, MR Hines, R Zhang, M Jeng… - Cancer, 2019 - Wiley Online Library
Background Langerhans cell histiocytosis (LCH) is a rare myeloid neoplasm characterized
by the presence of abnormal CD1a‐positive (CD1a+)/CD207+ histiocytes. Hemophagocytic …

Central nervous system involvement and thrombocytopenia as predictors of mortality in children with hemophagocytic lymphohistiocytosis

S Harnchoowong, S Soponkanaporn, S Vilaiyuk… - Frontiers in …, 2022 - frontiersin.org
Introduction Hemophagocytic lymphohistiocytosis (HLH) is a potentially life-threatening
condition. This study aimed to evaluate treatment outcomes and identify prognostic-related …

Diagnosis and treatment of systemic juvenile idiopathic arthritis

S Shenoi, CA Wallace - The Journal of Pediatrics, 2016 - jpeds.com
Systemic juvenile idiopathic arthritis (SJIA) is an im-portant disease for primary care
physicians to keep in mind while managing a child with fever without an obvious source …

The long tail and rare disease research: the impact of next-generation sequencing for rare Mendelian disorders

T Shen, A Lee, C Shen, CJ Lin - Genetics research, 2015 - cambridge.org
There are an estimated 6000–8000 rare Mendelian diseases that collectively affect 30
million individuals in the United States. The low incidence and prevalence of these diseases …

Heterogeneity of macrophage activation syndrome and treatment progression

Y Dong, T Wang, H Wu - Frontiers in Immunology, 2024 - frontiersin.org
Macrophage activation syndrome (MAS) is a rare complication of autoimmune inflammatory
rheumatic diseases (AIIRD) characterized by a progressive and life-threatening condition …

Dilemmas in diagnosis and management of hemophagocytic lymphohistiocytosis in children

XJ Xu, YM Tang - World Journal of Pediatrics, 2020 - Springer
Background Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening entity which is
characterized by severe hyperinflammation. Now the HLH-2004 protocol has been widely …