Results 11 to 20 of about 172 (116)
Monogenic lupus – from gene to targeted therapy
Molecular and Cellular PediatricsSystemic lupus erythematosus (SLE) is a prototypic autoimmune disease characterized by loss of tolerance to nuclear antigens. The formation of autoantibodies and the deposition of immune complexes trigger inflammatory tissue damage that can affect any ...
Katharina Menzel +4 more
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Monogenic forms of systemic lupus erythematosus: new insights into SLE pathogenesis [PDF]
Pediatric Rheumatology Online Journal, 2012 The pathogenesis of Systemic Lupus Erythematosus (SLE) is complex and remains poorly understood. Infectious triggers, genetic background, immunological abnormalities and environmental factors are all supposed to interact for the disease development ...
Belot Alexandre, Cimaz Rolando
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Genetic and phenotypic landscape of monogenic lupus: insights from an international cohort
Lupus Science and MedicineObjective To characterise the clinical, immunologic and molecular genetic features of monogenic lupus in a large, ethnically diverse paediatric cohort and to evaluate genotype-phenotype correlations.Methods We conducted a retrospective multicentre study ...
Alhanouf AlSaleem +15 more
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Monogenic lupus with SLC7A7 mutations: a retrospective study from a Chinese center
Orphanet Journal of Rare DiseasesBackground Monogenic lupus is a rare but severe form of systemic lupus erythematosus (SLE) that typically manifests during childhood. Mutations in SLC7A7 cause lysinuric protein intolerance (LPI), and this gene has been implicated in monogenic lupus ...
Yifan Li +10 more
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Mediterranean Journal of Hematology and Infectious DiseasesAutoimmune lymphoproliferative syndrome (ALPS) is a disease characterized by dysfunction of the T lymphocyte apoptotic pathways, mostly due to dysfunctional FAS mediated signaling. However few cases can also occur independent of FAS pathway alteration.
Amiya Nayak +5 more
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From monogenic lupus to TLR7/MyD88-targeted therapy
The Innovation, 2022 Min Wang, Yezi Peng, Hao Li, Xuan Zhang
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Efficacy of a sequential treatment by belimumab in monogenic systemic lupus erythematosus
European Journal of Rheumatology, 2020 The objective of the study was to report the safety and potential therapeutic effect of belimumab in monogenic systemic lupus erythematosus (SLE). Consecutive children with monogenic SLE treated with belimumab were evaluated retrospectively. Response parameters assessment was completed at the time of initiation of belimumab, at 6 months, and last ...
Lujayn Akbar +2 more
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Monogenic Lupus with IgA Nephropathy Caused by Spondyloenchondrodysplasia with Immune Dysregulation [PDF]
Indian Journal of Pediatrics, 2021 Monogenic disorders causing systemic lupus erythematosus represent a small subset of cases. Type-1 interferonopathies, like spondyloenchondrodysplasia with immune dysregulation constitute an important functional category of monogenic lupus. Apart from autoimmune disorders, neurological and skeletal abnormalities are additional manifestations observed ...
Haseena Sait +5 more
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Familial Chilblain Lupus, a Monogenic Form of Cutaneous Lupus Erythematosus, Maps to Chromosome 3p [PDF]
The American Journal of Human Genetics, 2006 Systemic lupus erythematosus is a prototypic autoimmune disease. Apart from rare monogenic deficiencies of complement factors, where lupuslike disease may occur in association with other autoimmune diseases or high susceptibility to bacterial infections, its etiology is multifactorial in nature.
Lee-Kirsch, Min Ae +9 more
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Heliyon, 2022 Although perceived as an adaptative immune disorder, mainly related to Lymphocyte B and T, last years focus on Systemic Lupus Erythematosus (SLE) pathogeny emphasised the important role of innate immunity.
Ioana Saulescu +2 more
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