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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   +5 more sources

Hereditary Systemic Autoinflammatory Diseases: Therapeutic Stratification

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, Ovgu Kul Cinar, Amber Putland, Karen Wynne, Despina Eleftheriou, Despina Eleftheriou, Despina Eleftheriou, Paul A. Brogan, Paul A. Brogan   +8 more
doaj   +5 more sources

Editorial: Hereditary Periodic Fevers and Autoinflammatory Diseases [PDF]

Frontiers in Pediatrics, 2022
Hafize Emine Sönmez, Betül Sözeri, Nuray Aktay Ayaz   +2 more
doaj   +5 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
openaire   +3 more sources

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, Takayuki Tanaka, Takeshi Shiba, Yoshitaka Honda, Yoshitaka Honda, Kazushi Izawa, Takahiro Yasumi, Megumu K. Saito, Ryuta Nishikomori   +8 more
doaj   +2 more sources

Incidence of hereditary amyloidosis and autoinflammatory diseases in Sweden: endemic and imported diseases [PDF]

BMC Medical Genetics, 2013
Amyloidoses are a heterogeneous group of progressive diseases caused by tissue deposition of misfolded proteins. According to the International Classification of Diseases, hereditary amyloidosis is divided into neuropathic and non-neuropathic forms.
Kari Hemminki, Xinjun Li, Asta Försti, Jan Sundquist, Kristina Sundquist   +4 more
openaire   +4 more sources

New workflow for classification of genetic variants’ pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID)

Journal of Medical Genetics, 2018
Background Hereditary recurrent fevers (HRFs) are rare inflammatory diseases sharing similar clinical symptoms and effectively treated with anti-inflammatory biological drugs. Accurate diagnosis of HRF relies heavily on genetic testing.
Van Gijn, Marielle E., Ceccherini, Isabella, Shinar, Yael, Carbo, Ellen C., Slofstra, Mariska, Arostegui, Juan I., Sarrabay, Guillaume, Rowczenio, Dorota, Omoyimni, Ebun, Balci-Peynircioglu, Banu, Hoffman, Hal M., Milhavet, Florian, Swertz, Morris A., Touitou, Isabelle   +13 more
openaire   +4 more sources

Novel HCK-associated mutation causing autoinflammatory disorder with pulmonary manifestations in a pediatric patient [PDF]

Pediatric Rheumatology Online Journal
Autoinflammatory 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, Shams Ismayilova, Nida Gürbüz   +2 more
doaj   +2 more sources

Monogenic autoinflammatory diseases in adults – a challenge to rheumatologic practice at the onset of the Polish national programme of interleukin 1 inhibitor treatment

Rheumatology, 2019
Monogenic autoinflammatory diseases (AIDs, formerly known as hereditary periodic fever syndromes) cover a spectrum of diseases which lead to chronic or recurrent inflammation caused by activation of the innate immune system. The most common monogenic AID
Marcin Milchert, Joanna Makowska, Olga Brzezińska, Marek Brzosko, Ewa Więsik-Szewczyk   +4 more
doaj   +2 more sources

Consensus protocols for the diagnosis and management of the hereditary autoinflammatory syndromes CAPS, TRAPS and MKD/HIDS: a German PRO-KIND initiative

Pediatric Rheumatology Online Journal, 2020
Background Rare autoinflammatory diseases (AIDs) including Cryopyrin-Associated Periodic Syndrome (CAPS), Tumor Necrosis Receptor-Associated Periodic Syndrome (TRAPS) and Mevalonate Kinase Deficiency Syndrome (MKD)/ Hyper-IgD Syndrome (HIDS) are ...
Sandra Hansmann, Elke Lainka, Gerd Horneff, Dirk Holzinger, Nikolaus Rieber, Annette F. Jansson, Angela Rösen-Wolff, Gabi Erbis, Martina Prelog, Juergen Brunner, Susanne M. Benseler, Jasmin B. Kuemmerle-Deschner   +11 more
doaj   +2 more sources