Neutrophil extracellular traps in systemic autoimmune and autoinflammatory diseases
G Wigerblad, MJ Kaplan - Nature Reviews Immunology, 2023 - nature.com
Systemic autoimmune diseases are characterized by the failure of the immune system to
differentiate self from non-self. These conditions are associated with significant morbidity …
differentiate self from non-self. These conditions are associated with significant morbidity …
Juvenile idiopathic arthritis
Juvenile idiopathic arthritis (JIA) is an umbrella term for arthritis of unknown origin, lasting
for> 6 weeks with onset before 16 years of age. JIA is the most common chronic …
for> 6 weeks with onset before 16 years of age. JIA is the most common chronic …
Estimated prevalence and clinical manifestations of UBA1 variants associated with VEXAS syndrome in a clinical population
Importance VEXAS (vacuoles, E1-ubiquitin-activating enzyme, X-linked, autoinflammatory,
somatic) syndrome is a disease with rheumatologic and hematologic features caused by …
somatic) syndrome is a disease with rheumatologic and hematologic features caused by …
Management of stroke in neonates and children: a scientific statement from the American Heart Association/American Stroke Association
DM Ferriero, HJ Fullerton, TJ Bernard, L Billinghurst… - Stroke, 2019 - Am Heart Assoc
Purpose—Much has transpired since the last scientific statement on pediatric stroke was
published 10 years ago. Although stroke has long been recognized as an adult health …
published 10 years ago. Although stroke has long been recognized as an adult health …
Genetic compensation triggered by mutant mRNA degradation
Genetic robustness, or the ability of an organism to maintain fitness in the presence of
harmful mutations, can be achieved via protein feedback loops. Previous work has …
harmful mutations, can be achieved via protein feedback loops. Previous work has …
Deficiency of adenosine deaminase 2 (DADA2): updates on the phenotype, genetics, pathogenesis, and treatment
I Meyts, I Aksentijevich - Journal of clinical immunology, 2018 - Springer
Abstract Deficiency of ADA2 (DADA2) is the first molecularly described monogenic vasculitis
syndrome. DADA2 is caused by biallelic hypomorphic mutations in the ADA2 gene that …
syndrome. DADA2 is caused by biallelic hypomorphic mutations in the ADA2 gene that …
The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammation
Autoinflammatory diseases were first recognized nearly 20 years ago as distinct clinical and
immunological entities caused by dysregulation in the innate immune system. Since then …
immunological entities caused by dysregulation in the innate immune system. Since then …
A dominant autoinflammatory disease caused by non-cleavable variants of RIPK1
Activation of RIPK1 controls TNF-mediated apoptosis, necroptosis and inflammatory
pathways. Cleavage of human and mouse RIPK1 after residues D324 and D325 …
pathways. Cleavage of human and mouse RIPK1 after residues D324 and D325 …
Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease
Q Zhou, H Wang, DM Schwartz, M Stoffels, YH Park… - Nature …, 2016 - nature.com
Systemic autoinflammatory diseases are driven by abnormal activation of innate immunity.
Herein we describe a new disease caused by high-penetrance heterozygous germline …
Herein we describe a new disease caused by high-penetrance heterozygous germline …
Monogenic autoinflammatory disorders: conceptual overview, phenotype, and clinical approach
PA Nigrovic, PY Lee, HM Hoffman - Journal of Allergy and Clinical …, 2020 - Elsevier
Autoinflammatory diseases are conditions in which pathogenic inflammation arises primarily
through antigen-independent hyperactivation of immune pathways. First recognized just …
through antigen-independent hyperactivation of immune pathways. First recognized just …