Results 61 to 70 of about 10,022 (165)

A Real‐Life, Multicenter, Retrospective Study on Epidemiological and Clinical Features of Patients With Hidradenitis Suppurativa and Concomitant Down Syndrome

International Journal of Dermatology, EarlyView.
Summary of the clinical characteristics and 2‐year follow‐up of patients with HS and concomitant DS in a multicentre Italian cohort, highlighting earlier HS onset, clinical features, and improved disease severity, quality of life, and pain over follow‐up, supporting early screening and multidisciplinary care of this special population.
Chiara Moltrasio, Luisa Sarno, Giovanni Genovese, Federica Derlino, Dalma Malvaso, Valeria Gaspari, Marina Venturini, Federica Repetto, Gianluca Avallone, Simone Ribero, Elisa Molinelli, Oriana Simonetti, Alessandra Michelucci, Marco Romanelli, Valentina Dini, Marco Manfredini, Cristina Magnoni, Caterina Foti, Silvia Sanna, Laura Atzori, Federico Bardazzi, Riccardo Balestri, Giulia Rech, Paolo Gisondi, Raffaele Dante Caposiena Caro, Iris Zalaudek, Viviana Lora, Luca Fania, Elia Rosi, Stefano Buffon, Carlo Alberto Maronese, Alessandra Cartocci, Pietro Rubegni, Francesca Prignano, Angelo Valerio Marzano   +34 more
wiley   +1 more source

When to consider an inborn error of immunity: clues for physicians

Internal Medicine Journal, EarlyView.
Abstract The term inborn errors of immunity (IEIs) refers to the rapidly expanding group of genetic disorders causing dysregulation of the immune system. With improved genetic testing in recent years, the number of defined IEIs and their range of phenotypic presentations has grown vastly, with more than 550 IEIs now described.
Meera Thangarajah, Lucinda J. Berglund
wiley   +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

The Transcription Factor EGR2 Plays a Central Role in the Expansion and Function of TCRαβ+CD4−CD8− Double Negative T Cells in lpr Lupus Mice

Immunology, EarlyView.
The highly expanded TCRβ+ DNT cells in autoimmune‐prone B6/lpr mice are phenotypically and functionally different from the TCRβ+DNT cells of normal B6 mice. Conditional Egr2 deletion in B6/lpr mice not only reduces TCRβ+ DNT cell numbers but also tends to correct the phenotypic and functional abnormalities of DNT cells in B6/lpr mice. In addition, Egr2
Rujuan Dai, Zhuang Wang, Bettina Heid, Christopher M. Reilly, S. Ansar Ahmed   +4 more
wiley   +1 more source

Genomic and proteomic insights into hidradenitis suppurativa

Journal of the European Academy of Dermatology and Venereology, EarlyView.
A dual pathogenic model of HS involving both epithelial dysfunction and systemic inflammation is supported. The HLA‐DRA association hints at autoimmune overlap, but the proteomic signature which is dominated by innate immune mediators favours an autoinflammatory classification, which may guide future therapeutic strategies and patient stratification ...
Maria Argyropoulou, Emmanouil Stylianakis, Isis Ricaño‐Ponce, Nick Keur, Theodora Kanni, Dimitra Stergianou, Mihai G. Netea, Vinod Kumar, Evangelos J. Giamarellos‐Bourboulis   +8 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

Schnitzler Syndrome as an Autoinflammatory Disease Driven by B‐Cell‐Specific Somatic MYD88 Mutation

Allergy, EarlyView.
Yuyi Zhou, Yoko Ueki, Naoya Iwata, Hiroshi Oue, Kentaro Kato, Mengyan Li, Kazushi Izawa, Tomoyasu Jo, Seishi Ogawa, Kenji Kabashima, Naotomo Kambe   +10 more
wiley   +1 more source

Periodontitis and Inflammatory Bowel Diseases: Mechanistic Evidence

Journal of Periodontal Research, EarlyView.
This review aims to provide a conceptual framework for understanding the mechanistic interplay between periodontitis and IBD, with a particular emphasis on the microbial and immunological crosstalk linking the oral cavity and the gastrointestinal tract.
Ana Paula V. Colombo, Adriana M. de Oliveira, Nobuhiko Kamada, Sho Kitamoto   +3 more
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

Monogenic familial autoinflammatory Behçet-like syndrome/ haploinsufficiency A20 syndrome is a new form of autoinflammatory pathology. Literature review and description of cases

Научно-практическая ревматология
Monogenic familial autoinflammatory Behçet-like syndrome/haploinsufficiency A20 syndrome is a hereditary autoinflammatory disease from the group of ubiquitinopathies which are caused by a mutation of the TNFAIP3 gene encoding the A20 protein with an ...
Е. S. Fedorov, S. О. Salugina, Е. Yu. Zakharova, А. N. Shapovalenko, S. G. Radenska-Lopovok, V. G. Matkava, А. N. Arefieva   +6 more
doaj   +1 more source