APOL1-Associated Collapsing Focal Segmental Glomerulosclerosis in a Patient With Stimulator of Interferon Genes (STING)-Associated Vasculopathy With Onset in Infancy (SAVI)

We describe a patient with a genetic condition that results in an increased IFN state, stimulator of IFN genes (STING)-associated vasculopathy with onset in infancy (SAVI), who developed collapsing glomerulopathy during a flare of his disease. The patient was found to have APOL1 G1 and G2 risk variants. This case supports the role of IFN in inducing APOL1-associated collapsing glomerulopathy.
Source: American Journal of Kidney Diseases - Category: Urology & Nephrology Source Type: research

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Systemic lupus erythematosus (SLE) is an autoimmune disorder characterized by increased production of autoantibodies, which commonly target nuclear antigens, and concomitant deposition of immune complexes that cause inflammation in tissues. SLE is often associated with increased systemic expression of type I interferons, in some cases due to dysregulation in nucleic acid-sensing innate pathways. There is strong genetic evidence for a link between cytoplasmic RNA sensing pathways (RIG-I/MDA5) and SLE, both in human patients and murine models, however questions still remain regarding pathway initiation, cell types involved a...
Source: Frontiers in Immunology - Category: Allergy & Immunology Source Type: research
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Source: Fight Aging! - Category: Research Authors: Tags: Newsletters Source Type: blogs
Sterile inflammation arises without external cause, such as infection or injury, and chronic sterile inflammation is a characteristic of aging. Inflammatory signaling becomes constant and pronounced in tissues, and the immune system is constantly roused to action. Processes, such as regeneration from injury, that depend upon a clear cycle of inflammation that starts, progresses, and resolves are significantly disrupted. It is no exaggeration to say that the downstream consequences of chronic inflammation accelerate the progression of all of the common age-related conditions. It is of great importance in atherosclerosis and...
Source: Fight Aging! - Category: Research Authors: Tags: Medicine, Biotech, Research Source Type: blogs
We report a novel gain-of-function G207E STING mutation causing a distinct phenotype with alopecia, photosensitivity, thyroid dysfunction and features of STING-associated vasculopathy with onset in infancy (SAVI), such as early-onset livedo reticularis, skin vasculitis, facial erythema and bacterial skin infections.
Source: Journal of Investigative Dermatology - Category: Dermatology Authors: Tags: Adaptive Immunity and Autoimmunity Source Type: research
Conclusion As a critical regulator of inflammation and cell survival, the NFκB pathway is a promising target for diagnosing and treating kidney diseases. For modulation of the NFκB pathway in the clinic, a number of molecules can effectively inhibit NFκB signaling by targeting the receptors, associated adaptors, IKKs, IκBs and transcriptional regulators (144). There is further clinical evidence on small-molecule inhibitors of IKKα and NIK from recent trials on anti-cancer therapies (145). These clinical trials showed that the cancer-selective pharmacodynamic response of DTP3, the co-inhibitor...
Source: Frontiers in Immunology - Category: Allergy & Immunology Source Type: research
This study was supported in part by the Projects: Redes Internacionales (REDI170651) (to AH and MI); Proyecto interno Universidad Autónoma de Chile (DIUA 134-2018) and by the Pilot Research Grant (PP-1805-30965) from the National Multiple Sclerosis Society (to AH); Proyecto Genera-Autónoma N°UA 17-04 and FONDECYT de Inicio N° 11160592, CONICYT (to NE) and Proyecto Vicerrectoría de Investigación, Pontificia Universidad Católica de Chile Puente P1802 (to CL). Conflict of Interest Statement The authors declare that the research was conducted in the absence of any commercial or fina...
Source: Frontiers in Immunology - Category: Allergy & Immunology Source Type: research
Abstract Gain-of-function mutations in the STING-encoding gene TMEM173 are central to the pathology of the autoinflammatory disorder STING-associated vasculopathy with onset in infancy (SAVI). Furthermore, excessive activity of the STING signaling pathway is associated with autoinflammatory diseases, including systemic lupus erythematosus and Aicardi-Goutières syndrome (AGS). Two independent studies recently identified pharmacological inhibitors of STING. Strikingly, both types of compounds are reactive nitro-containing electrophiles that target STING palmitoylation, a posttranslational modification necessa...
Source: Cellular and Molecular Immunology - Category: Molecular Biology Authors: Tags: Cell Mol Immunol Source Type: research
Discussion Hypopigmentation can be worrisome for many families because of cosmesis and the worry that “something is wrong.” The normal natural changes in skin-tone over the year due to different light exposure and wide variations within individuals is not something that many people are aware of. Post-inflammatory hypopigmentation is a common cause of hypopigmentation. Vitiligo is the most common cause of depigmentation. Vitiligo is an acquired, depigmenting disorder with typical lesions appearing as milky white macules with distinct margins that are not scaly. Hair (including eyebrows and eyelashes) can be dep...
Source: PediatricEducation.org - Category: Pediatrics Authors: Tags: Uncategorized Source Type: news
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Source: Cell Reports - Category: Cytology Source Type: research
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Source: Annales de Dermatologie et de Cenereologie - Category: Dermatology Authors: Tags: Ann Dermatol Venereol Source Type: research
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