Results 81 to 90 of about 2,214,075 (211)

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

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   +1 more source

An Atypical Skin Presentation of Adult‐Onset Still's Disease With Histological Description: A Case Report

Journal of Cutaneous Pathology, EarlyView.
ABSTRACT Adult‐onset Still's disease (AOSD) is an auto inflammatory disorder with a variable clinical presentation, and without a pathognomonic diagnostic test, characterized by high spiking fever, arthralgia/arthritis, a suggestive skin rash, elevated white blood cell count 10 G/L (> 80% neutrophils), elevated ferritin, with glycosylated ferritin < 20%
M. Nordmann, T. Mazza, S. Menzinger, G. Kaya, S. Bogiatzi, S. Vandenberghe‐Dürr, M. Blanchard, J. Stirnemann   +7 more
wiley   +1 more source

TNF receptor signalling in autoinflammatory diseases [PDF]

, 2019
Autoinflammatory syndromes are a group of disorders characterised by recurring episodes of inflammation as a result of specific defects in the innate immune system.
Lara-Reyna, Samuel; id_orcid, McDermott, MF, Holbrook, Jonathan, McDermott, Michael F, Jarosz-Griffiths, HH, Holbrook, J, Lara-Reyna, S, Jarosz-Griffiths, Heledd H   +7 more
core   +1 more source

S1 Guideline: Therapy of generalized pustular psoriasis

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Summary The S1 guideline “Therapy of generalized pustular psoriasis (GPP)” is a German guideline developed in accordance with the criteria of the AWMF. The full version addresses clinical presentation, pathogenesis, diagnosis and differential diagnosis, comorbidities, and therapy.
Rotraut Mößner, Neda Cramer, Sascha Gerdes, Ulrike Hüffmeier, Andreas Körber, Kai Krause, Christian Kromer, Katharina Antonia Langen, Sandra Philipp, Knut Schäkel, Michael P. Schön, Michael Schultheis, Lukas Sollfrank, Petra Staubach, Michael Sticherling, Johannes Wohlrab, Dagmar Wilsmann‐Theis, Cornelia Paul   +17 more
wiley   +1 more source

Prevalence of Allergic Diseases in Patients with Common Autoinflammatory Diseases

, 2021
Objective: Autoinflammatory diseases are driven by abnormal activation of the innate immune system. Although allergic diseases are known to be mediated by the T helper 2 response, new mechanisms are put forward about the activation of innate immunity ...
Erdogan, Tuba, YAŞAR BİLGE, NAZİFE ŞULE, KAŞİFOĞLU, TİMUÇİN   +2 more
core   +1 more source

AUTOINFLAMMATORY DISEASES IN CHILDREN(The Lecture from 18th of September 2013, Conference «Topical Problems of Diagnostics and Treatment of Juvenile Rheumatoid Arthritis» (18–20 of September, 2013, St. Petersburg))

Вопросы современной педиатрии, 2014
Data about clinical signs, diagnostics and treatment of hereditary autoinflammatory syndromes, e.g. cryopyrin-associated periodic syndrome (CAPS), familial Mediterranean fever (FMF), TNF-receptor associated periodic syndrome (TRAPS-syndrome ...
M. Gattorno
doaj   +1 more source

Inborn errors of immunity in children with neuroinflammation

Developmental Medicine &Child Neurology, EarlyView.
Abstract Inborn errors of immunity (IEIs), an expanding group of monogenic disorders with diverse clinical manifestations, are increasingly recognized to include neuroinflammatory disease. Examples of diseases included under this umbrella are Aicardi–Goutières syndrome, deficiency of adenosine deaminase 2, familial haemophagocytic lymphohistiocytosis ...
Eppie M Yiu, Dilan Dissanayake, Jessie Cunningham, Helen Branson, Ori Scott, E Ann Yeh   +5 more
wiley   +1 more source

The Therapeutic Role of Interleukin-1 Inhibition in Idiopathic Recurrent Pericarditis: Current Evidence and Future Challenges

Frontiers in Medicine, 2017
Recurrent pericarditis is a common complication of acute pericarditis (15–30%) for which, in most cases, no underlying etiology is found [idiopathic recurrent pericarditis (IRP)]. IRP is currently viewed as an autoinflammatory disease with characteristic
George Lazaros, Katerina Antonatou, Dimitrios Vassilopoulos   +2 more
doaj   +1 more source

Cutaneous involvement by myeloid leukaemias: challenging cases with important implications

Histopathology, EarlyView.
Myeloid leukaemias and precursors involving the skin are often challenging to diagnose with varied and overlapping clinical and histopathologic features. Nonetheless, they are critical for pathologists to recognize and accurately classify. This review discusses the clinical, histopathological and genetic features of myelodysplasia cutis (A) and ...
Alexandra C. Hristov
wiley   +1 more source

Principles of clinical genetics for rheumatologists: clinical indications and interpretation of broad-based genetic testing

Advances in Rheumatology
Advances in DNA sequencing technologies, especially next-generation sequencing (NGS), which is the basis for whole-exome sequencing (WES) and whole-genome sequencing (WGS), have profoundly transformed immune-mediated rheumatic disease diagnosis. Recently,
Renan Rodrigues Neves Ribeiro do Nascimento, Caio Robledo D’Angioli Costa Quaio, Christine Hsiaoyun Chung, Dewton de Moraes Vasconcelos, Flavio Roberto Sztajnbok, Nilton Salles Rosa Neto, Sandro Félix Perazzio   +6 more
doaj   +1 more source