Results 91 to 100 of about 172 (116)
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A Deep Dive Into Monogenic Lupus: Insights on DNASE1L3 Mutation
RheumatologyAbstract Objective In this study, we aim to describe the largest cohort of monogenic lupus caused by DNASE1L3 yet reported, describing its phenotypic characteristics and outcomes. Methods We performed a multicentre ...
Safiya Al abrawi +2 more
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LASSO-Derived Nomogram for Early Identification of Pediatric Monogenic Lupus
World Journal of PediatricsAbstract Background Monogenic lupus is defined as systemic lupus erythematosus (SLE)/SLE-like patients with either dominantly or recessively inherited pathogenic variants in a single gene with high penetrance. However, because the clinical phenotype of monogenic SLE is extensive and overlaps with that of classical SLE ...
Hongmei Song
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LRBA deficiency: a new genetic cause of monogenic lupus
Annals of the Rheumatic Diseases, 2020Juvenile systemic lupus erythematosus (JSLE) is considered a polygenic disease, although identified causes of monogenic SLE and lupus-like syndrome are enlarging.1 2 The genetic basis of polyautoimmune syndromes is also being elucidated, now including lipopolysaccharide-responsive beige-like anchor (LRBA) deficiencies.3 We report a patient carrying a ...
Bernadete L Liphaus +5 more
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Characterisation and Diagnostic Model of Monogenic Lupus
Immunologic ResearchStandardised diagnostic criteria for monogenic lupus are lacking owing to its rarity, diverse phenotypes, and significant heterogeneity in pathogenesis, phenotypic characteristics, disease course, and outcomes. Further, no studies have analysed the characteristics of multiple pathological mechanisms of monogenic lupus.
Mengyang, Yang +6 more
exaly +3 more sources
[Monogenic systemic lupus erythematosus].
Nephrologie & therapeutique, 2012Systemic lupus erythematosus (SLE) is a rare autoimmune disease, which is more severe in case of pediatric onset. This may be due to greater involvement of genetic factors in comparison to adult forms. SLE is a multifactorial disease and is thought to be secondary to a combination of genetic, environmental factors as well as immunological defects ...
Alexandre, Belot, Pierre, Cochat
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UNCovering new causes of monogenic systemic lupus erythematosus
Immunology & Cell BiologyAbstractUNC93B1 is essential for the stability and endosomal trafficking of nucleic‐acid sensing Toll‐like receptors (TLRs) including TLR7 and TLR8. Increased TLR7 responses are associated with lupus autoimmunity in both mice and humans. In a recent article, Al‐Azab et al.
Julia I Ellyard, Michael P Gantier
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Refractory Immune Thrombocytopenia With Trex1 Mutation Positive Probable Monogenic Lupus
Blood Cells, Molecules, and DiseasesRahul Naithani, Vivek Mohan
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Rheumatology International
To study the clinical, laboratory profile and outcome of juvenile Systemic Lupus Erythematosus (jSLE) patients at a tertiary care centre in South India. A retrospective review of the medical records of all jSLE patients visiting the Pediatric Immunology and Rheumatology Unit, Aster CMI Hospital, India from February 2017 to December 2023 was performed ...
Sagar Bhattad +9 more
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To study the clinical, laboratory profile and outcome of juvenile Systemic Lupus Erythematosus (jSLE) patients at a tertiary care centre in South India. A retrospective review of the medical records of all jSLE patients visiting the Pediatric Immunology and Rheumatology Unit, Aster CMI Hospital, India from February 2017 to December 2023 was performed ...
Sagar Bhattad +9 more
openaire +2 more sources
Nature Reviews Rheumatology
Over the past two decades, the number of genetically defined autoinflammatory interferonopathies has steadily increased. Aicardi-Goutières syndrome and proteasome-associated autoinflammatory syndromes (PRAAS, also known as CANDLE) are caused by genetic defects that impair homeostatic intracellular nucleic acid and protein processing respectively ...
Raphaela Goldbach-Mansky +2 more
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Over the past two decades, the number of genetically defined autoinflammatory interferonopathies has steadily increased. Aicardi-Goutières syndrome and proteasome-associated autoinflammatory syndromes (PRAAS, also known as CANDLE) are caused by genetic defects that impair homeostatic intracellular nucleic acid and protein processing respectively ...
Raphaela Goldbach-Mansky +2 more
openaire +2 more sources