Results 61 to 70 of about 172 (116)

Renal macrophage TLR7 signaling in lupus nephritis: from pathogenic mechanisms to therapeutic opportunities

Frontiers in Immunology
Recent studies, including reports of rare monogenic Toll-Like Receptor 7 (TLR7) gain-of-function mutations, have established TLR7 as a causal driver in a subset of human systemic lupus erythematosus (SLE) cases.
Longzhu Li, Longzhu Li, Zeqiong Lin, Zeqiong Lin, Lu Chen, Junmin Huang, Hongying Luo, Ziqian Bi, Tianyang Wang, Yongzhi Xu, Huafeng Liu, Huafeng Liu, Junfeng Hao, Jiansong Qi, Jiansong Qi   +14 more
doaj   +1 more source

Revisiting Childhood-Onset Systemic Lupus Erythematosus

Turkish Archives of Pediatrics
Childhood-onset systemic lupus erythematosus (cSLE) is a chronic autoimmune disease with a multisystemic involvement diagnosed during childhood. The disease is marked by the production of autoantibodies targeting self-antigens, often before symptoms ...
Pınar Özge Avar-Aydın, Hermine I. Brunner   +1 more
doaj   +1 more source

Pulmonary arterial hypertension in interferonophaties: a case report and a review of the literature

Pulmonary Circulation, 2019
Background Pulmonary arterial hypertension consists in an increase of mean pulmonary arterial pressure (PAPm ≥ 25 mmHg), and may lead to right ventricular failure.
A. Trombetta, S. Ghirardo, S. Pastore, A. Tesser, E. Piscianz, A. Tommasini, M. Bobbo, A. Taddio   +7 more
doaj   +1 more source

Paediatric‐onset autoimmune cytopenia: How can we reduce the long‐term mortality?

British Journal of Haematology, Volume 209, Issue 2, Page 825-829, August 2026.
Nathalie Aladjidi, Thierry Leblanc, Helder Fernandes, Capucine Picard, Jacinta Bustamante, Frédéric Rieux‐Laucat, Mathieu Fusaro, Maud Tusseau, Charlotte Durand‐Teyssier, Emma Cohendy, Jérôme Granel, Stéphane Ducassou, Agathe Escudier, Despina Moshous, Marc Michel, Bertrand Godeau, Sébastien Héritier, Mony Fahd, Brigitte Bader‐Meunier, Alain Fischer, Guy Leverger, All collaborators from the French Paediatric Haemato‐Immunologic CEREVANCE Network   +21 more
wiley   +1 more source

TREX1 D18N mice fail to process erythroblast DNA resulting in inflammation and dysfunctional erythropoiesis

Autoimmunity, 2018
Anaemia is commonly observed in chronic inflammatory conditions, including systemic lupus erythematosus (SLE), where ∼50% of patients display clinical signs of anaemia.
Stephen L. Rego, Scott Harvey, Sean R. Simpson, Wayne O. Hemphill, Zachariah A. McIver, Jason M. Grayson, Fred W. Perrino   +6 more
doaj   +1 more source

Interferonopathies at the crossroads of monogenic lupus and autoinflammation: A case study

Gene & Protein in Disease
Monogenic lupus is a highly complex condition with marked variability, resulting from diverse immune system etiopathogenesis linked to various pathogenic genetic variants. There is substantial overlap with newly described systemic autoinflammatory disorders.
Sulaiman M. Al-Mayouf, Alhanouf Alsaleem
openaire   +1 more source

Familial lupus associated with a P2RY8 variant: Navigating the boundary between monogenic disease and genetic susceptibility to lupus

Journal of Human Immunity
Identification of a heterozygous P2RY8 E323G substitution in a father and son with cutaneous lupus and enhanced type I interferon signaling supports a role for P2RY8 in lupus pathogenesis and highlights the overlap between Mendelian disease and complex susceptibility.
Clémence David, Anne Welfringer-Morin, Luis Seabra, Yanick J. Crow, Marie Jachiet, Marie-Louise Frémond   +5 more
openaire   +3 more sources

Case Report: A case of haploinsufficiency of A20 in a newborn with abnormal liver enzymes at disease onset

Frontiers in Pediatrics
A20 haploinsufficiency (HA20) is an early-onset monogenic autoinflammatory disease caused by loss-of-function variants in the TNFAIP3 gene, which encodes the A20 protein.
Yuanying Yu, Saizhen Zeng
doaj   +1 more source

GPIHBP1 Autoantibody‐Related Hypertriglyceridemia in Children: A Report of Two Cases and a Review of Pediatric Cases From the Literature

Molecular Genetics & Genomic Medicine
Background Severe hypertriglyceridemia (HTG) is rare in children and is often caused by monogenic disorders. However, autoimmune mechanisms, particularly antibodies against glycosylphosphatidylinositol‐anchored high‐density lipoprotein‐binding protein 1 (
Rai‐Hseng Hsu, Wuh‐Liang Hwu, Feng‐Jung Yang, Ni‐Chung Lee, Yin‐Hsiu Chien   +4 more
doaj   +1 more source

Monogenic lupus

International Journal of Clinical Rheumatology, 2014
Mindy S Lo, George C Tsokos
openaire   +1 more source