Results 51 to 60 of about 2,072 (198)

Alpha-1 antitrypsin deficiency-associated panniculitis: a case report

Zdravniški Vestnik
Alpha-1 antitrypsin deficiency is a hereditary disorder with predominantly pulmonary but also extrapulmonary manifestations. In the skin, it is associated with panniculitis, a necrotizing neutrophilic inflammation in the subcutis. Clinically, it presents
Špela But, Maja Jerše, Pij Bogomir Marko   +2 more
doaj   +1 more source

Autoinflammatory diseases: a possible cause of thrombosis? [PDF]

, 2015
Autoinflammatory diseases are a group of disorders due to acquired or hereditary disfunction of innate immune system and characterized by systemic or localized manifestations. The prototype is Familial Mediterranean Fever, a monogenic hereditary disorder,
Francesco Orlandini, Micaela La Regina, Raffaele Manna   +2 more
core   +2 more sources

Cutaneous neutrophilic panniculitis and vasculitis in a shar‐pei with autoinflammatory disease

Veterinary Record Case Reports, 2023
Abstract An 8‐year‐old, spayed, female shar‐pei with an earlier clinical diagnosis of shar‐pei autoinflammatory disease presented with fever and plaque‐nodular ulcerative dermatitis. Dermatopathological examination was compatible with diffuse, non‐septal, neutrophilic panniculitis and leukocytoclastic vasculitis, and bacterial culture
Maria Cabré, Laura Ordeix, Lluís Ferrer   +2 more
openaire   +1 more source

NEMO‐NDAS: Case Report and Review of the Literature

Pediatric Dermatology, EarlyView.
ABSTRACT NEMO‐deleted exon 5 autoinflammatory syndrome (NEMO‐NDAS) is the result of a gain‐of‐function IKBKG pathogenic variant leading to dysregulated NF‐κB signaling and systemic inflammation. We present a case of NEMO‐NDAS in a 2‐year‐old female presenting with recurrent fevers, subcutaneous nodules, lymphadenopathy, and splenomegaly.
Angela Yang, Kristie Mar, Kimberly A. Morishita, Kevin Meesters, Antonio Torrelo, Joseph M. Lam   +5 more
wiley   +1 more source

Autoinflammatory syndromes: diagnosis and management [PDF]

, 2010
During the last decades the description of autoinflammatory syndromes induced great interest among the scientific community. Mainly rheumatologists, immunologists and pediatricians are involved in the discovery of etiopathogenesis of these syndromes and ...
Sara De Sanctis, Manuela Nozzi, Marianna Del Torto, Alessandra Scardapane, Stefania Gaspari, Giuseppina de Michele, Luciana Breda, Francesco Chiarelli   +7 more
core   +2 more sources

Protein misfolding and dysregulated protein homeostasis in autoinflammatory diseases and beyond. [PDF]

, 2015
Cells have a number of mechanisms to maintain protein homeostasis, including proteasome-mediated degradation of ubiquitinated proteins and autophagy, a regulated process of ‘self-eating’ where the contents of entire organelles can be recycled for other ...
A Halle, A Kaser, A Kitamura, A Simon, AA Lobito, AB Singleton, AC Bulua, AK Agarwal, AM Cuervo, Amma F. Agyemang, AR Simard, AR Winslow, AV Matveyenko, B Levine, B Nedjai, B Neerinckx, B Shi, B Wang, C Dode, C Hetz, C Koumenis, C Pintado, CC Ferrari, CG Brook, CM Ethen, CM Larsen, CS Mendes, CS Shi, D Blum-Degen, D Narendra, DG McGonagle, DH Anderson, DS Friedman, E Hetier, ET Chouchani, F Ciccia, F Martinon, F Martinon, F Pickford, F Urano, FS Giovine Di, FS Giovine di, G Boden, H Gao, H Kroeger, H Park, H Snyder, HD Ryoo, HM Gao, HM Gao, HM Hoffman, HW Virgin, I Aksentijevich, I Aksentijevich, I Allaeys, I Mitroulis, I Todd, I Todd, J Feldmann, J Harris, J Hirosumi, J Moscat, J Wu, J Yu, JA Duncan, JA Ehses, JD Rioux, JE Ramos de Carvalho, JJ Chae, JJ Hoozemans, JJ Hoozemans, JL Webb, JP Mear, JP Sherlock, JR Vingerling, JW Crabb, JY Choe, K Arima, K Cadwell, K Nakahira, KK Chung, KS McNaught, KS McNaught, KT Uysal, L Agostini, L Cantarini, L Qin, L Salvado, L Serrano-Marco, L-p Yang, LJ Dickie, LM Ittner, LV Johnson, M Gattorno, M Komatsu, M Lu, M Martinez-Vicente, M Meyer-Luehmann, M Mogi, M Mogi, M Shimazawa, M-J Kang, MC Chartier-Harlin, MC Pott Godoy, MF Gregor, MF McDermott, MG Spillantini, MG Spillantini, MH Polymeropoulos, Michael F. McDermott, MJ Turner, MJ Turner, ML DeLay, ML Huggins, MS Gorbatyuk, N Hosogai, N Mimura, N Romberg, N Yousaf, NK Sharma, NS Dangoria, P Scott, PL McGeer, PN Hawkins, Q Qiu, Q Yao, R Burgh van der, R Goldbach-Mansky, RC Chang, RC Coll, RD Jager, Richard M. Siegel, S Itagaki, S Savic, S Savic, S Xanthoulea, SL Doyle, SL Masters, SL Masters, SL Rebelo, SM Churchman, Stephanie R. Harrison, SW Canna, T Bachetti, T Bachetti, T Hara, T Ryhänen, T Saitoh, T Strowig, T Yoshizaki, T Yoshizaki, The Eye Diseases Prevalence Research, G, U Ozcan, U Ozcan, U Seifert, VT Samuel, W Pan, X Zhang, Y Liu, Y Shi, Y Zhong, Y-H Youm, ZV Wang   +162 more
core   +1 more source

The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology Points to Consider for Diagnosis and Management of Autoinflammatory Type I Interferonopathies: CANDLE/PRAAS, SAVI, and AGS [PDF]

, 2022
Objective Autoinflammatory type I interferonopathies, chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature/proteasome-associated autoinflammatory syndrome (CANDLE/PRAAS), stimulator of interferon genes (STING)-associated ...
Adang, Laura A., Aletaha, Daniel, Armangue, Thais, Barchus, Kathe, Brogan, Paul A., Cetin Gedik, Kader, Cordova, Devon R., Crow, Yanick J., Dale, Russell C., Demirkaya, Erkan, Durrant, Karen L., Eleftheriou, Despina, Fazzi, Elisa M., Feldman, Brian M., Gattorno, Marco, Gavazzi, Francesco, Goldbach‐Mansky, Raphaela, Hanson, Eric P., Lamot, Lovro, Lee‐Kirsch, Min Ae, Montealegre Sanchez, Gina A., Neven, Bénédicte, Orcesi, Simona, Ozen, Seza, Piskin, David, Poli, M. Cecilia, Romano, Micol, Schumacher, Elliot, Tonduti, Davide, Torreggiani, Sofia, Uss, Katsiaryna, Vanderver, Adeline   +31 more
core   +1 more source

Polymorphic Clinical and Pathological Presentation of Nontuberculous Mycobacteria: A Case Series

Case Reports in Dermatological Medicine, Volume 2026, Issue 1, 2026.
Background Nontuberculous mycobacteria (NTM) are a group of mycobacteria widely distributed in the environment. They may cause cutaneous infections in immunocompromised and immunocompetent hosts. Clinical presentations can be significantly heterogeneous and are not species‐specific; moreover, histological features can vary, probably depending on host ...
Gabriele Biondi, Martina Uda, Lavinia Bazzoni, Rosanna Rita Satta, Ioannis D. Bassukas   +4 more
wiley   +1 more source

Mucocutaneous manifestations in patients with rheumatoid arthritis: A cross-sectional study from Eastern India

Indian Journal of Dermatology, 2017
Background: Cutaneous manifestations are fairly common in rheumatoid arthritis (RA) and they can help in early diagnosis, prompt treatment, and hence reduced morbidity from the disease.
Sudip Kumar Ghosh, Debabrata Bandyopadhyay, Surajit Kumar Biswas, Ivoreen Darung   +3 more
doaj   +1 more source

α1-Antitrypsin deficiency. [PDF]

, 2016
α1-Antitrypsin deficiency (A1ATD) is an inherited disorder caused by mutations in SERPINA1, leading to liver and lung disease. It is not a rare disorder but frequently goes underdiagnosed or misdiagnosed as asthma, chronic obstructive pulmonary disease ...
Brantly, Mark L, Ferrarotti, Ilaria, Greene, Catherine M, Lomas, David A, Marciniak, Stefan J, McElvaney, Noel G, Stoller, James K, Teckman, Jeffrey   +7 more
core   +2 more sources