Results 1 to 10 of about 172 (116)

Monogenic Lupus: A Developing Paradigm of Disease [PDF]

Frontiers in Immunology, 2018
Monogenic lupus is a form of systemic lupus erythematosus (SLE) that occurs in patients with a single gene defect. This rare variant of lupus generally presents with early onset severe disease, especially affecting the kidneys and central nervous system.
Lourdes Ortiz-Fernández, Amr H Sawalha
exaly   +5 more sources

Dysregulation of the cGAS-STING Pathway in Monogenic Autoinflammation and Lupus

Frontiers in Immunology, 2022
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 cytosol heralds a potential threat. The cGAS-STING pathway is one of the most
Holly Wobma, Daniel S. Shin, Janet Chou, Fatma Dedeoğlu   +3 more
doaj   +3 more sources

Interferonopathies masquerading as non-Mendelian autoimmune diseases: pattern recognition for early diagnosis

Frontiers in Pediatrics, 2023
Type I interferonopathies are a broad category of conditions associated with increased type I interferon gene expression and include monogenic autoinflammatory diseases and non-Mendelian autoimmune diseases such as dermatomyositis and systemic lupus ...
Samuel Gagne, Vidya Sivaraman, Vidya Sivaraman, Shoghik Akoghlanian, Shoghik Akoghlanian   +4 more
doaj   +1 more source

Genetic aspects of the pathogenesis of systemic lupus erythematosus in children

Современная ревматология, 2020
The paper presents data on the pathogenesis of systemic lupus erythematosus (SLE), and depicts various molecular mechanisms for the development of SLE and lupus-like syndromes.
E. M. Kuchinskaya, E. N. Suspitsyn, M. M. Kostik   +2 more
doaj   +1 more source

Atypical diabetes with spontaneous remission associated with systemic lupus erythematosus in an adolescent girl of African ancestry, a case report

BMC Endocrine Disorders, 2023
Background New-onset diabetes in youth encompasses type 1 diabetes, type 2 diabetes, monogenic diabetes, and rarer subtypes like Type B insulin resistance syndrome and ketosis-prone atypical diabetes in African populations. Some cases defy classification,
Fanny Luterbacher, Jean-Louis Blouin, Valerie M. Schwitzgebel   +2 more
doaj   +1 more source

Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologies

Pediatric Rheumatology Online Journal, 2019
Background Systemic lupus erythematosus (SLE) comprise a diverse range of clinical manifestations. To date, more than 30 single gene causes of lupus/lupus like syndromes in humans have been identified.
Irit Tirosh, Shiri Spielman, Ortal Barel, Reut Ram, Tali Stauber, Gideon Paret, Marina Rubinsthein, Itai M. Pessach, Maya Gerstein, Yair Anikster, Rachel Shukrun, Adi Dagan, Katerina Adler, Ben Pode-Shakked, Alexander Volkov, Marina Perelman, Shoshana Greenberger, Raz Somech, Einat Lahav, Amar J. Majmundar, Shai Padeh, Friedhelm Hildebrandt, Asaf Vivante   +22 more
doaj   +1 more source

A Novel Type I Interferon Primed Dendritic Cell Subpopulation in TREX1 Mutant Chilblain Lupus Patients

Frontiers in Immunology, 2022
Heterozygous TREX1 mutations are associated with monogenic familial chilblain lupus and represent a risk factor for developing systemic lupus erythematosus.
Anne Eugster, Denise Müller, Anne Gompf, Susanne Reinhardt, Annett Lindner, Michelle Ashton, Nick Zimmermann, Stefan Beissert, Ezio Bonifacio, Ezio Bonifacio, Claudia Günther   +10 more
doaj   +1 more source

Loss of CD11b Accelerates Lupus Nephritis in Lyn-Deficient Mice Without Disrupting Glomerular Leukocyte Trafficking

Frontiers in Immunology, 2022
Systemic lupus erythematosus (SLE) is a complex, heterogeneous autoimmune disease. A common manifestation, lupus nephritis, arises from immune complex deposition in the kidney microvasculature promoting leukocyte activation and infiltration, which ...
Timothy A. Gottschalk, Pamela Hall, Evelyn Tsantikos, Elan L’Estrange-Stranieri, Michael J. Hickey, Margaret L. Hibbs   +5 more
doaj   +1 more source

Novel TLR7 gain-of-function variant and review of the associated disease spectrumNovel TLR7 GOF variant and review of associated disease spectrum [PDF]

Journal of Human Immunity
This study identifies a novel TLR7 variant causing monogenic lupus, recurrent infections, and neuroinflammation. The phenotype resembles type I interferonopathies, with neuroinflammation emerging as a core feature, with sustained interferon pathway ...
Maud Tusseau, Claire Desvignes, Guilaine Boursier, Clémentine Fort, Clémence David, Marie-Louise Frémond, Sarah Benezech, Samira Khaldi-Plassart, Antonin Chenel, Jade Cognard, Liliane Khoryati, Jonathan Sormani, Frédérique Dijoud, David Goncalves, Anais Nombel, Maurine Jouret, Anne-Laure Mathieu, Alexandre Belot   +17 more
doaj   +1 more source

The Role of Genetic Risk Factors in Pathogenesis of Childhood-Onset Systemic Lupus Erythematosus

Current Issues in Molecular Biology, 2023
The pathogenesis of childhood-onset systemic lupus erythematosus (cSLE) is complex and not fully understood. It involves three key factors: genetic risk factors, epigenetic mechanisms, and environmental triggers.
Mario Sestan, Nastasia Kifer, Todor Arsov, Matthew Cook, Julia Ellyard, Carola G. Vinuesa, Marija Jelusic   +6 more
doaj   +1 more source