Results 91 to 100 of about 10,179 (209)

Familial mediterranean fever: clinical case

open access: yesКлиническая практика, 2019
Background. Familial Mediterranean fever (FMF) is the brightest exponent of autoinflammatory diseases. FMF usually occurs to people of Mediterranean origin (Jews, Armenians, Azerbaijanis, Arabs, Kurds, Greeks, Turks and Italians).
Roman S. Saykovskiy, S. V. Sadovnikova
doaj   +1 more source

Dermatologic Findings of RELA‐Associated Autoinflammatory Disease

open access: yesPediatric Dermatology, EarlyView.
ABSTRACT Variants in the gene RELA have been implicated in a monogenic, hereditary form of Behcet's‐like syndrome. This case series describes the dermatologic manifestations of three patients with identified RELA‐associated autoinflammatory disease.
Elizabeth Nourse   +4 more
wiley   +1 more source

NEMO‐NDAS: Case Report and Review of the Literature

open access: yesPediatric Dermatology, EarlyView.
ABSTRACT NEMO‐deleted exon 5 autoinflammatory syndrome (NEMO‐NDAS) is the result of a gain‐of‐function IKBKG pathogenic variant leading to dysregulated NF‐κB signaling and systemic inflammation. We present a case of NEMO‐NDAS in a 2‐year‐old female presenting with recurrent fevers, subcutaneous nodules, lymphadenopathy, and splenomegaly.
Angela Yang   +5 more
wiley   +1 more source

Familial Mediterranean fever (FMF) and beyond: a new horizon. Fourth International Congress on the systemic autoinflammatory diseases held in Bethesda, USA, 6-10 November 2005

open access: yes, 2006
Autoinflammatory diseases are characterised by seemingly unprovoked inflammation. They can be categorised as: hereditary (monogenic) autoinflammatory diseases, complex (polygenic/multifactorial) autoinflammatory diseases, and diseases where the course is
Hoffman, H. M.   +3 more
core  

Adjunctive Therapeutic Plasma Exchange in Refractory Adult‐Onset Still's Disease Complicated by Secondary Macrophage Activation Syndrome: A Single‐Center Experience

open access: yesTherapeutic Apheresis and Dialysis, Volume 30, Issue 3, Page 389-396, June 2026.
ABSTRACT Introduction Adult‐onset Still's disease (AOSD) complicated by macrophage activation syndrome (MAS) carries substantial mortality. The role of therapeutic plasma exchange (TPE) remains uncertain. Methods We retrospectively analyzed patients with AOSD‐MAS treated with TPE at a single‐center.
Masataka Ueda   +15 more
wiley   +1 more source

Digital twins to accelerate target identification and drug development for immune‐mediated disorders

open access: yesFEBS Open Bio, Volume 16, Issue 6, Page 1048-1059, June 2026.
Digital twins integrate patient‐derived molecular and clinical data into personalised computational models that simulate disease mechanisms. They enable rapid identification and validation of therapeutic targets, prediction of drug responses, and prioritisation of candidate interventions.
Anna Niarakis, Philippe Moingeon
wiley   +1 more source

Performance Characteristics of Anti–Collagen II Antibodies in Relapsing Polychondritis and Related Diseases: Prospective Analysis, Systematic Review, and Meta‐Analysis

open access: yesArthritis Care &Research, Volume 78, Issue 6, Page 798-809, June 2026.
Objective Relapsing polychondritis (RP) is a rare disease defined by recurrent cartilaginous inflammation. Anti–collagen II (Col2) antibodies have been proposed as a diagnostic biomarker for RP, but their performance characteristics are not well defined.
Karyssa Stonick   +6 more
wiley   +1 more source

Current practices for the genetic diagnosis of autoinflammatory diseases: results of a European Molecular Genetics Quality Network Survey

open access: yes, 2019
International audienceMonogenic autoinflammatory disorders (AIDs) are rare diseases caused by variants in genes regulating the innate immune system. The identification of the first four genes responsible for the prototype group of hereditary recurrent ...
Dorota Rowczenio   +13 more
core   +1 more source

Positive and Negative Cardiovascular Effects of JAK Inhibitors in Inflammation

open access: yesACR Open Rheumatology, Volume 8, Issue 6, June 2026.
Chronic inflammation, characteristic of many autoimmune diseases, such as rheumatoid arthritis (RA), or myeloproliferative neoplasms (MPNs), is an independent driver of accelerated cardiovascular (CV) risk, primarily through proinflammatory cytokines that induce atherosclerosis and endothelial dysfunction.
Aliki Zavoriti, Pierre Miossec
wiley   +1 more source

Autoinflammatory syndromes

open access: yes, 2006
The autoinflammatory disorders are a new and expanding classification of inflammatory diseases characterized by recurrent episodes of systemic inflammation in the absence of pathogens, autoantibodies or antigen specific T cells.
HOFFMAN, H. M.   +12 more
core  

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