Hereditary Systemic Autoinflammatory Diseases: Therapeutic Stratification [PDF]
Frontiers in Pediatrics, 2022 Hereditary systemic autoinflammatory diseases (SAIDs) are rare, often severe conditions characterised by mutations in the key regulators of innate immune responses.
Ovgu Kul Cinar +8 more
doaj +6 more sources
Aseptic Μeningitis in Hereditary Autoinflammatory Diseases. [PDF]
Cureus, 2020 Autoinflammatory diseases (ADs) refer to a group of disorders of the innate immune system, mainly monogenic, marked by episodes of systemic inflammation. Aseptic meningitis is a rare neurological manifestation of ADs characterized by meningeal inflammation, negative routine cultures in the cerebrospinal fluid and identical signs and symptoms of ...
Neokleous A, Psarelis S, Parperis KM.
europepmc +4 more sources
Hereditary systemic autoinflammatory diseases and Schnitzler’s syndrome [PDF]
Rheumatology, 2019 Abstract The systemic autoinflammatory diseases are disorders of the innate immune system distinguished by severe inflammation resulting from dysregulation of the innate immune system. Hereditary fever syndromes, such as FMF, TNF receptor-associated periodic syndrome, cryopyrin-associated periodic syndromes and mevalonate kinase ...
Mark Kacar, Shelly Pathak, Sinisa Savic
core +5 more sources
Editorial: Hereditary Periodic Fevers and Autoinflammatory Diseases [PDF]
Frontiers in Pediatrics, 2022 Hafize Emine Sönmez +2 more
doaj +4 more sources
Novel HCK-associated mutation causing autoinflammatory disorder with pulmonary manifestations in a pediatric patient [PDF]
Pediatric Rheumatology Online JournalAutoinflammatory diseases, characterized by recurrent systemic inflammation due to innate immune dysregulation, often present with fever, arthritis, abdominal pain, and cutaneous involvement, with elevated acute-phase reactants during flare-ups.
Afig Berdeli +2 more
doaj +2 more sources
A de novo heterozygous PSTPIP1 variant associated with PAPA syndrome: a Chinese case report and literature review [PDF]
Frontiers in GeneticsPyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome is a rare autosomal dominant hereditary autoinflammatory disease caused by PSTPIP1 gene variants and belongs to the PSTPIP1-associated inflammatory diseases (PAIDs).
Mengmeng Wang +3 more
doaj +2 more sources
Clinical and genetic characteristics of adult patients with familial Mediterranean fever at a German tertiary referral centre [PDF]
BMC RheumatologyObjective To characterise the clinical and genetic profile of adult familial Mediterranean fever (FMF) patients at a German tertiary referral centre and examine genotype–phenotype associations.
Dorothea Reck +2 more
doaj +2 more sources
Systemic autoinflammatory disorders [PDF]
Clinical and Experimental Pediatrics, 2023 Inflammation is a physiologic defense mechanism against an out-side attack. Usually, it resolves after the removal of noxious causes, but systemic autoinflammatory disorders (SAIDs) have recurrent or repeated acute inflammation through uncontrolled gene ...
Dae Chul Jeong
doaj +1 more source
Induced Pluripotent Stem Cell-Derived Monocytes/Macrophages in Autoinflammatory Diseases
Frontiers in Immunology, 2022 The concept of autoinflammation, first proposed in 1999, refers to a seemingly unprovoked episode of sterile inflammation manifesting as unexplained fever, skin rashes, and arthralgia.
Takayuki Tanaka +8 more
doaj +1 more source
Designation of Autoinflammatory Skin Manifestations With Specific Genetic Backgrounds
Frontiers in Immunology, 2020 “Autoinflammatory disease (AiD)” has first been introduced in 1999 when the responsible gene for the familial Hibernean fever or autosomal dominant-type familial Mediterranean fever-like periodic fever syndrome was reportedly identified as tumor necrosis
Nobuo Kanazawa
doaj +1 more source