Results 71 to 80 of about 172 (116)

Editorial: Case Reports in Pediatric Rheumatology 2022

Frontiers in Pediatrics, 2023
Maryam Bakhtiari Koohsorkhi, Junfeng Wu, Vahid Ziaee, Vahid Ziaee, Vahid Ziaee, Vahid Ziaee   +5 more
doaj   +1 more source

Predictors of damage accrual in childhood-onset SLE: a retrospective analysis from a tertiary lupus centre in Türkiye

Lupus Science and Medicine
Introduction SLE is a chronic autoimmune disease characterised by multisystem involvement and fluctuating clinical course, often leading to permanent organ damage.
Ozgur Kasapcopur, Sezgin Sahin, Amra Adrovic, Kenan Barut, Mehmet Yildiz, Oya Koker, Aybuke Gunalp, Umit Gul, Esma Aslan, Fatih Haslak, Alperen Eravsar, Kaan Can Demirbas, Ece Aslan, Nergis Akay, Elif Kilic Konte   +14 more
doaj   +1 more source

Familial chilblain lupus--a monogenic form of cutaneous lupus erythematosus due to a heterozygous mutation in TREX1.

Dermatology (Basel, Switzerland), 2009
Dieser Beitrag ist mit Zustimmung des Rechteinhabers aufgrund einer (DFG-geförderten) Allianz- bzw. Nationallizenz frei zugänglich.
Günther, Claudia, Meurer, Michael, Stein, Annette, Viehweg, Antje, Lee-Kirsch, Min-Ae   +4 more
openaire   +2 more sources

Oligoprotein type I interferon signatures, but not TREX1 variants, increase risk of systemic lupus erythematosus in UK Biobank

Nature Communications
The 3′ − 5′ DNA exonuclease, TREX1, is a negative regulator of the type I interferon response, while TREX1 variants are considered to confer risk for non-monogenic systemic lupus erythematosus (SLE).
Bastien Rioux, Sarah McGlasson, Deborah Forbes, Katy R. Reid, Anna Klingseisen, Joe Berry, Neeraj Dhaun, Wan Fai Ng, William Whiteley, David P. J. Hunt   +9 more
doaj   +1 more source

PO:16:233 | Efficacy of voclosporin on nephritis in patients with variable gain of function of TLR7 affected by lupus: clinical case

Reumatismo
Background. We present the case of a 45-year-old woman diagnosed with systemic lupus erythematosus (SLE) in 2022, following the identification of a hemizygous gain-of-function variant in the TLR7 gene, detected during family screening for type I ...
Società Italiana di Reumatologia
doaj  

Expanding the clinical spectrum of DNASE1L3-associated monogenic lupus

RATIONALE: DNASE1L3 deficiency is a rare autosomal-recessive monogenic form of systemic lupus erythematosus, characterized by defective clearance of extracellular DNA, leading to immune-complex formation, autoantibody production, and systemic inflammation.
Kousa, Alyamama, Alhamwi, Ahmad, Alsayed, Mohammad Khaled, Jabaly, Sara, Khalil, Basheer   +4 more
openaire   +1 more source

P74 Late-onset monogenic lupus: a case-based review

Lupus Science and Medicine
Serdal Ugurlu, Esra Firat Senturk, Bilal Berke Ayvaz, Sinem Firtina   +3 more
doaj   +1 more source

Correction to: Anifrolumab in Monogenic Lupus caused by TREX1 Mutation

Journal of Clinical Immunology
Moran‑Alvarez, Patricia, Messia, Virginia, Matteo, Valentina, Soscia, Francesca, Prencipe, Giusi, Benedetti, Fabrizio De, Insalaco, Antonella   +6 more
openaire   +1 more source

P157: Initial findings of the ClinGen Monogenic Systemic and Incomplete Lupus Gene Curation Expert Panel*

Genetics in Medicine Open
Rachel Shapira, Monica Bowen, Yevgeniya Gartshteyn, Yuke He, Megan Johnson, Ingrid Keseler, Nasim Monfared, Andrra Nimoni, Ivona Aksentijevich, Louis Bridges, Teri Klein, Steven Mack, Ruth Fernandez Ruiz, George Tsokos   +13 more
doaj   +1 more source

A de novo TLR7 gain-of-function mutation causing severe monogenic lupus in an infant

The Journal of Clinical Investigation
Jarmila Stremenova Spegarova, Praisoody Sinnappurajar, Dalila Al Julandani, Rokas Navickas, Helen Griffin, Manisha Ahuja, Angela Grainger, Katie Livingstone, Gillian I. Rice, Fraser Sutherland, Corinne Hayes, Simon Parke, Lewis Pang, Marion R. Roderick, Mary Slatter, Yanick Crow, Athimalaipet V. Ramanan, Sophie Hambleton   +17 more
doaj   +1 more source