Results 11 to 20 of about 10,022 (165)

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

The homozygous founder Psmb8 variant of Nakajo-Nishimura syndrome/proteasome-associated autoinflammatory syndrome causes panniculitis-associated lipoatrophy and a shortened lifespan in mice [PDF]

Scientific Reports
Nakajo-Nishimura syndrome/proteasome-associated autoinflammatory syndrome (NNS/PRAAS) is a hereditary autoinflammatory disease. Clinically, NNS/PRAAS is characterized by periodic fever, skin rash, partial lipo-muscular atrophy, and joint contractures ...
Tomoyuki Hara, Akira Kinoshita, Jun Hamazaki, Hiroaki Hemmi, Takashi Kato, Izumi Sasaki, Yutaka Inaba, Yusuke Yamashita, Daisuke Okuzaki, Koh-Ichiro Yoshiura, Shigeo Murata, Masatoshi Jinnin, Tsuneyasu Kaisho, Nobuo Kanazawa   +13 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 Genetics
Pyogenic 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, Mengmeng Wang, Ping Zhang, Min Shen   +3 more
doaj   +2 more sources

Interleukin‐18 signaling promotes activation of hepatic stellate cells in mouse liver fibrosis

Hepatology, EarlyView., 2022
Interleukin‐18 signaling promotes activation of hepatic stellate cells in mouse liver fibrosis. Abstract Background and Aims Nucleotide‐binding oligomerization domain‐like receptor‐family pyrin domain‐containing 3 (NLRP3) inflammasome activation has been shown to result in liver fibrosis.
Jana Knorr, Benedikt Kaufmann, Maria Eugenia Inzaugarat, Theresa Maria Holtmann, Lukas Geisler, Jana Hundertmark, Marlene Sophia Kohlhepp, Laela M. Boosheri, Daisy R. Chilin‐Fuentes, Amanda Birmingham, Kathleen M. Fisch, Joel D. Schilling, Sven H. Loosen, Christian Trautwein, Christoph Roderburg, Münevver Demir, Frank Tacke, Hal M. Hoffman, Ariel E. Feldstein, Alexander Wree   +19 more
wiley   +1 more source

Joint together: The etiology and pathogenesis of ankylosing spondylitis

Frontiers in Immunology, 2022
Spondyloarthritis (SpA) refers to a group of diseases with inflammation in joints and spines. In this family, ankylosing spondylitis (AS) is a rare but classic form that mainly involves the spine and sacroiliac joint, leading to the loss of flexibility ...
Yuehan Xiong, Menghua Cai, Yi Xu, Peng Dong, Hui Chen, Hui Chen, Wei He, Wei He, Jianmin Zhang, Jianmin Zhang   +9 more
doaj   +1 more source

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, S. O. Salugina, N. N. Kuzmina   +2 more
doaj   +1 more source

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   +1 more source

Systemic disease or periodontal disease? Distinguishing causes of gingival inflammation: a guide for dental practitioners. Part 1: immune-mediated, autoinflammatory, and hereditary lesions [PDF]

British Dental Journal, 2019
Periodontitis and gingivitis remain two of the most common diseases that affect the oral cavity. As they are caused by plaque, effective oral hygiene, elimination of plaque-retentive factors and successful periodontal treatment will result in resolution of gingival and periodontal inflammation.
Josefine, Hirschfeld, Jon, Higham, Despoina, Chatzistavrianou, Fiona, Blair, Andrea, Richards, Iain L C, Chapple   +5 more
openaire   +2 more sources

Periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis syndrome in children: a brief literature review

Revista Paulista de Pediatria, 2022
Objective: To describe clinical, diagnostic and therapeutic characteristics of the periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) syndrome.
Cristina Terumy Okamoto, Hanne Lise Chaves, Mateus José Schmitz   +2 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, M. S. Eliseev, M. N. Chikina   +2 more
doaj   +1 more source