Emerging place of JAK inhibitors in the treatment of inborn errors of immunity

J Hadjadj, ML Frémond, B Neven - Frontiers in Immunology, 2021 - frontiersin.org
Among inborn errors of immunity (IEIs), some conditions are characterized by inflammation
and autoimmunity at the front line and are particularly challenging to treat. Monogenic …

Regulation and inhibition of the DNA sensor cGAS

J Hertzog, J Rehwinkel - EMBO reports, 2020 - embopress.org
Cell‐autonomous sensing of nucleic acids is essential for host defence against invading
pathogens by inducing antiviral and inflammatory cytokines. cGAS has emerged in recent …

Dysregulation of the cGAS-STING pathway in monogenic autoinflammation and lupus

H Wobma, DS Shin, J Chou, F Dedeoğlu - Frontiers in immunology, 2022 - frontiersin.org
One of the oldest mechanisms of immune defense against pathogens is through detection of
foreign DNA. Since human DNA is compartmentalized into the nucleus, its presence in the …

[HTML][HTML] Regulation and function of the cGAS-MITA/STING axis in health and disease

ZD Zhang, B Zhong - Cell Insight, 2022 - Elsevier
The innate immune systems detect pathogens via pattern-recognition receptors including
nucleic acid sensors and non-nucleic acid sensors. Cyclic guanosine monophosphate …

Emerging concepts and treatments in autoinflammatory interferonopathies and monogenic systemic lupus erythematosus

R Goldbach-Mansky, S Alehashemi… - Nature Reviews …, 2024 - nature.com
Over the past two decades, the number of genetically defined autoinflammatory
interferonopathies has steadily increased. Aicardi–Goutières syndrome and proteasome …

Primary immunodeficiency as a cause of immune-mediated kidney diseases

C Zhang, D Liang, Z Liu - Nephrology Dialysis Transplantation, 2024 - academic.oup.com
Primary immunodeficiency (PID) is no longer defined by infections alone, and autoimmunity
is an accompanying manifestation of PID. Recurrent infections may trigger autoimmunity …

Unveiling human DNase II: Molecular characterization, gene insights, and functional implications: Human DNase II: Molecular insights & functional implications

S Razia, H Takeshita, K Inoue, R Iida, M Ueki… - Legal Medicine, 2024 - Elsevier
This review comprehensively explores the molecular characterization, genetic insights, and
functional implications of human DNase II, an enzyme crucial for DNA hydrolysis under …

Anifrolumab to treat a monogenic interferonopathy

MA Doroudchi, TJ Thauland, BA Patel… - The Journal of Allergy and …, 2024 - Elsevier
DNase II plays an important role in clearance of nucleic acids by hydrolyzing DNA under 30
acidic conditions. DNAse II deficiency results in inefficient degradation of self DNA, which …

Systemic Autoinflammatory Diseases

X Peng, O Schnappauf, AA De Jesus… - Manual of Molecular …, 2024 - Wiley Online Library
With the advent of widespread next‐generation sequencing, the systemic autoinflammatory
diseases (SAIDs) have emerged as one of the most rapidly expanding groups of monogenic …

Monogenic mimics of Behçet's Disease

AG Burleigh - 2023 - discovery.ucl.ac.uk
Behçet's Disease (BD) is a rare multisystemic variable vessel vasculitis with a chronic and
relapsing disease course. BD is polygenic, and genome wide association studies in cohorts …