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 +4 more
core +5 more sources
Untangling the Web of Systemic Autoinflammatory Diseases [PDF]
Mediators of Inflammation, 2014 The innate immune system is involved in the pathophysiology of systemic autoinflammatory diseases (SAIDs), an enlarging group of disorders caused by dysregulated production of proinflammatory cytokines, such as interleukin-1β and tumor necrosis factor-α,
Donato Rigante +14 more
doaj +2 more sources
Síndromes autoinflamatórias hereditárias na faixa etária pediátrica Pediatric hereditary autoinflammatory syndromes [PDF]
Jornal de Pediatria, 2010 OBJETIVO: Descrever as principais síndromes autoinflamatórias hereditárias na faixa etária pediátrica. FONTES DOS DADOS: Foi realizada uma revisão da literatura nas bases de dados PubMed e SciELO, utilizando as palavras-chave "síndromes autoinflamatórias”
Adriana Almeida Jesus +7 more
doaj +2 more sources
The laboratory approach in the diagnosis of systemic autoinflammatory diseases [PDF]
Reumatismo, 2011 Systemic autoinflammatory diseases are a group of inherited disorders of the innate immunity characterized by the recurrence of febrile attacks lasting from few hours to few weeks and multi-district inflammation of different severity involving skin ...
B. Frediani +6 more
doaj +3 more sources
The Clinical Chameleon of Autoinflammatory Diseases in Children [PDF]
Cells, 2022 The very first line of defense in humans is innate immunity, serving as a critical strongpoint in the regulation of inflammation. Abnormalities of the innate immunity machinery make up a motley group of rare diseases, named ‘autoinflammatory’, which are ...
Eugenio Sangiorgi, Donato Rigante
doaj +2 more sources
An Up-to-date Approach to a Patient with a Suspected Autoinflammatory Disease
Rambam Maimonides Medical Journal, 2017 Autoinflammatory diseases (AID) are characterized by seemingly unprovoked self-limited attacks of fever and systemic inflammation potentially leading to amyloidosis. Familial Mediterranean fever (FMF) is the most common AID and therefore the most studied.
Merav Lidar, Eitan Giat
doaj +2 more sources
Biological Treatments: New Weapons in the Management of Monogenic Autoinflammatory Disorders [PDF]
Mediators of Inflammation, 2013 Treatment of monogenic autoinflammatory disorders, an expanding group of hereditary diseases characterized by apparently unprovoked recurrent episodes of inflammation, without high-titre autoantibodies or antigen-specific T cells, has been revolutionized
Antonio Vitale +11 more
doaj +2 more sources
Hereditary periodic fever syndromes in adult rheumatology practice
Современная ревматология, 2018 Autoinflammatory diseases (AIDs) are a heterogeneous group of rare genetically determined, hereditary conditions characterized by unprovoked inflammatory episodes that are manifested by recurrent fever and clinical symptoms reminiscent of rheumatic ...
O. V. Zhelyabina +2 more
doaj +3 more sources
Development of the doctrine of auto-inflammatory diseases in the XXI century
Научно-практическая ревматология, 2019 The article presents the development of the doctrine of autoinflammatory diseases (AID) in the last decade. Data on interleukin 1, inflammasomes and their role in the development of AID are presented.
E. S. Fedorov +2 more
doaj +3 more sources
NLRP3 inflammasome and NLRP3-related autoinflammatory diseases: From cryopyrin function to targeted therapies [PDF]
Frontiers in Immunology, 2022 The NLRP3 inflammasome is one of the NOD-like receptor family members with the most functional characterization and acts as a key player in innate immune system, participating in several physiological processes including, among others, the modulation of ...
Chiara Moltrasio +5 more
doaj +2 more sources