Results 31 to 40 of about 2,214,075 (211)

Familial Mediterranean fever (a periodic disease): The present-day view of the problem

Современная ревматология, 2013
The paper deals with the most common classical autoinflammatory disease familial Mediterra-nean fever (FMF)/periodic disease. This is a monogenic hereditary disease caused by mutations with an autosomal recessive pattern of inheritance.
Evgeny Stanislavovich Fedorov, S O Salugina, N N Kuzmina   +2 more
doaj   +3 more sources

Muckle–Wells Syndrome in a Child With Recurrent Urticaria

Вопросы современной педиатрии, 2017
Cryopyrin associated periodic syndromes (CAPS) are rare monogenic autoinflammatory diseases from the group of hereditary periodic syndromes caused by a regulation defect of inflammatory cytokines, in particular interleukin 1β.
Elena M. Kamaltynova, Iulia P. Chasovskikh, Zinaida A. Maevskaia, Svetlana O. Salugina, Evgenii S. Fedorov, Inna E. Gerbek   +5 more
doaj   +1 more source

Inflammasomes and dermatology [PDF]

Anais Brasileiros de Dermatologia, 2016
: Inflammasomes are intracellular multiprotein complexes that comprise part of the innate immune response. Since their definition, inflammasome disorders have been linked to an increasing number of diseases.
Daniel Coelho de Sá, Cyro Festa Neto
doaj   +1 more source

The Clinical Chameleon of Autoinflammatory Diseases in Children

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   +1 more source

Familial Mediterranean fever: Health-related quality of life and associated variables in a national cohort

The Turkish Journal of Gastroenterology, 2021
Objectives: This study aims to evaluate the effectivity of Familial Mediterranean Fever Quality of Life (FMF-QoL) Scale for the measurement of QoL in patients with FMF and to perform correlations between related clinical variables in Turkish patients.
Hatice BODUR, Zafer GÜNENDİ, Murat TOPRAK, Nesrin ŞEN, Duygu ALTINTAŞ, Ahmet Kıvanç CENGİZ, Gökhan ÇAĞLAYAN, Ali Nail DEMİR, Hüseyin Kaplan, Sertaç KETENCİ, Meltem Alkan MELİKOĞLU, Mehmet NAYİMOĞLU, Kemal NAS, Banu SARIFAKIOĞLU, Hilal ECESOY, Şebnem ATAMAN, Ali Yavuz KARAHAN, Fatma GÜL YURDAKUL, Mehmet Tuncay DURUÖZ, Hasan Fatih ÇAY, Ülkü UÇAR, Yaşar KESKİN, Betül SARGIN, Gülcan GÜRER, Ozan Volkan YURDAKUL, Mustafa ÇALIŞ, Hülya DEVECİ, Yıldıray AYDIN, Sami HİZMETLİ, Remzi ÇEVİK, İlhan SEZER   +30 more
doaj  

Insights into CANDLE Syndrome

Revista da Sociedade Portuguesa de Dermatologia e Venereologia, 2020
Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome is a recently described chronic autoinflammatory disease, pathophysiologically related to intracellular proteasome/immunoproteasome dysfunction.
Katarina Kieselová, Felicidade Santiago, Martinha Henrique   +2 more
doaj   +1 more source

Pustular Eruptions in Children as Manifestations of Autoinflammatory Diseases

Revista da Sociedade Portuguesa de Dermatologia e Venereologia, 2019
Nowadays, in clinical practice, when attending a child with a pustular eruption and systemic inflammation, it is mandatory to think of an autoinflammatory disease, once infectious causes have been ruled out.
Felicidade Santiago, Antonio Torrelo
doaj   +1 more source

NLRP3 inflammasome and NLRP3-related autoinflammatory diseases: From cryopyrin function to targeted therapies

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, Chiara Moltrasio, Maurizio Romagnuolo, Maurizio Romagnuolo, Angelo Valerio Marzano, Angelo Valerio Marzano   +5 more
doaj   +1 more source

An international registry on autoinflammatory diseases: the Eurofever experience [PDF]

, 2012
Item does not contain fulltextOBJECTIVE: To report on the demographic data from the first 18 months of enrollment to an international registry on autoinflammatory diseases in the context of the Eurofever project.
Hentgen, V., Ruperto, Nicolino, Wouters, C., I. Touitou, Ozen, Seza, De Benedetti, Fabrizio, Ozgodan, H., Dolezalova, Pavla, C. Rose, Vesely, R., Hentgen, Veronique, Woo, P., Ozen, S., S. Stojanov, Rose, Carlos, H. Girschick, Gattorno, M., Touitou, Isabelle, R. Vesely, F. De Benedetti, Frenkel, Joost, Lachmann, Helen J., Dolezalova, P., Kümmerle-Deschner, Jasmin, Vesely, Richard, Wouters, Carine, Ruperto, N., Frenkel, J., P. Woo, Martini, A., S. Ozen, V. Hentgen, J. Kummerle Deschner, Stojanov, S., Benedetti, F. De, Toplak, N., J. Arostegui J, Touitou, I., Neven, B., N. Ruperto, Woo, Patricia, Simon, A., J. Frenkel, Neven, Benedicte, Stojanov, Silvia, Hofer, M., Kone-Paut, I., Girschick, H., Koné-Paut, Isabelle, De Benedetti, F., P. Dolezalova, Eurofever, Projects, Toplak, Natasa, Martini, Alberto, Gattorno, Marco, Paediatric Rheumatology International Trials Organisation, E., M. Gattorno, C. Wouters, Simon, Anna, Kummerle-Deschner, J., Hofer, Michael, Arostegui, J., I. Koné Paut, A. Simon, Girschick, Herman, Arostegui, Juan, H. Ozgodan, M. Hofer, Eurofever, P., B. Neven, H.J. Lachmann, Lachmann, H.J., Rose, C., N. Toplak, Ozgodan, Huri   +74 more
core   +1 more source

A Brief History of IL-1 and IL-1 Ra in Rheumatology

Frontiers in Pharmacology, 2017
The history of what, in 1979, was called interleukin-1 (IL-1), orchestrator of leukocyte inter-communication, began many years before then, initially by the observation of fever induction via the endogenous pyrogen (EP) (1974) and then in rheumatology on
Jean-Michel Dayer, Francesca Oliviero, Leonardo Punzi   +2 more
doaj   +1 more source