Cerebral autoinflammatory disease treated with anakinra
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DOI: 10.1002/acn3.656
Abstract: Interest in autoimmune encephalitis has been growing since the discovery of various autoimmune antibodies, such as N‐methyl D‐aspartate receptors antibody and leucine‐rich glioma‐inactivated 1 antibody. However, in contrast to autoimmune encephalitis associated with dysregulated adaptive… read more here.
Keywords: disease treated; treated anakinra; autoinflammatory disease; cerebral autoinflammatory ... See more keywords
Efficacy of canakinumab on AA amyloidosis in late-onset NLRP3-associated autoinflammatory disease with an I574F somatic mosaic mutation
Sign Up to like & getrecommendations! Published in 2022 at "Clinical Rheumatology"
DOI: 10.1007/s10067-022-06130-1
Abstract: There have been hundreds of reports on mutations in the NLRP3 gene related to NLRP3-associated autoinflammatory disease, but few of these mutations have occurred as both germline and somatic mosaic mutations. In this case-based review,… read more here.
Keywords: nlrp3 associated; somatic mosaic; associated autoinflammatory; amyloidosis ... See more keywords
A Rare Case of an NLRP12-Associated Autoinflammatory Disease.
Sign Up to like & getrecommendations! Published in 2021 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2021.104168
Abstract: Pathogenic variants in nucleotide-binding oligomerization-like receptor protein 12 (NLRP12) have been recently suggested as possible causes of autoinflammatory syndromes and should be considered for the differential diagnosis in the patients presenting with symptoms of autoinflammatory… read more here.
Keywords: associated autoinflammatory; autoinflammatory disease; rare case; case nlrp12 ... See more keywords
The role of polymorphic ERAP1 in autoinflammatory disease
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DOI: 10.1042/bsr20171503
Abstract: Autoimmune and autoinflammatory conditions represent a group of disorders characterized by self-directed tissue damage due to aberrant changes in innate and adaptive immune responses. These disorders possess widely varying clinical phenotypes and etiology; however, they… read more here.
Keywords: autoinflammatory disease; role polymorphic; autoimmune autoinflammatory; disease ... See more keywords
Conventional and Novel Therapeutic Options in Children with Familial Mediterranean Fever: A Rare Autoinflammatory Disease.
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DOI: 10.1111/bcp.15149
Abstract: Familial Mediterranean Fever (FMF) is the most common monogenic autoinflammatory disease and is usually diagnosed in childhood, especially in the first decade of life. Pediatric FMF is characterized by a protean clinical expression and a… read more here.
Keywords: therapeutic options; autoinflammatory disease; mediterranean fever; familial mediterranean ... See more keywords
Autoinflammatory disease mimicking acute hemorrhagic edema of infancy
Sign Up to like & getrecommendations! Published in 2020 at "Pediatric Dermatology"
DOI: 10.1111/pde.14402
Abstract: The autoinflammatory diseases are a heterogeneous group of disorders characterized by early appearance of symptoms and characteristic flares of fever plus signs of internal inflammation, including various skin manifestations. We describe a 2.5‐year‐old boy who… read more here.
Keywords: acute hemorrhagic; hemorrhagic edema; autoinflammatory disease; edema infancy ... See more keywords
Development of the autoinflammatory disease damage index (ADDI)
Sign Up to like & getrecommendations! Published in 2017 at "Annals of the Rheumatic Diseases"
DOI: 10.1136/annrheumdis-2016-210092
Abstract: Objectives Autoinflammatory diseases cause systemic inflammation that can result in damage to multiple organs. A validated instrument is essential to quantify damage in individual patients and to compare disease outcomes in clinical studies. Currently, there… read more here.
Keywords: autoinflammatory disease; damage index; disease damage; damage ... See more keywords
Autoinflammatory Disease Damage Index (ADDI): a possible newborn also in hidradenitis suppurativa daily practice
Sign Up to like & getrecommendations! Published in 2017 at "Annals of the Rheumatic Diseases"
DOI: 10.1136/annrheumdis-2016-210901
Abstract: To the Editor: Ter Haar et al 1 report a new tool, Autoinflammatory Disease Damage Index (ADDI), to measure damage caused by autoinflammatory diseases. Although this preliminary instrument was for patients with familial Mediterranean fever,… read more here.
Keywords: autoinflammatory disease; damage index; disease damage; damage ... See more keywords
Low-ratio somatic NLRC4 mutation causes late-onset autoinflammatory disease
Sign Up to like & getrecommendations! Published in 2022 at "Annals of the Rheumatic Diseases"
DOI: 10.1136/annrheumdis-2021-221708
Abstract: Objectives We aim to investigate the genetic basis of a case of late-onset autoinflammatory disease characterised by arthritis, recurrent fever and skin rashes. Methods We performed whole-exome/genome sequencing and digital droplet PCR (ddPCR) to identify… read more here.
Keywords: mutation; autoinflammatory disease; late onset; onset autoinflammatory ... See more keywords
Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Annals of the Rheumatic Diseases"
DOI: 10.1136/annrheumdis-2022-222629
Abstract: Objectives To test the hypothesis that ROSAH (retinal dystrophy, optic nerve oedema, splenomegaly, anhidrosis and headache) syndrome, caused by dominant mutation in ALPK1, is an autoinflammatory disease. Methods This cohort study systematically evaluated 27 patients… read more here.
Keywords: inflammation; function; rosah syndrome; autoinflammatory disease ... See more keywords
The Role of Anti-IL-1 Medications in Autoinflammatory Disease.
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DOI: 10.3928/19382359-20220115-01
Abstract: The interleukin (IL) -1 family of cytokines are involved in different aspects of inflammation with IL-1 beta being the best known and most powerful proinflammatory cytokine. Dysregulation of IL-1 beta and other family members results… read more here.
Keywords: rheumatology; medications autoinflammatory; autoinflammatory disease; role anti ... See more keywords