Use the keywords feature with a free QxMD account.
Use Read by QxMD to access full text via your institution or open access sources.
Read also provides personalized recommendations to keep you up to date in your field.
Existing User
Sign InNew to Read
Sign Up#1
JOURNAL ARTICLE
Tayfun Hilmi Akbaba, Kirandeep K Toor, Simranpreet K Mann, Kristen M Gibson, Gabriel Alejandro Alfaro, Banu Balci-Peynircioglu, David A Cabral, Kimberly A Morishita, Kelly L Brown
Chronic primary systemic vasculitis (PSV) comprises a group of heterogeneous diseases that are broadly classified by affected blood vessel size, clinical traits and the presence (or absence) of anti-neutrophil cytoplasmic antibodies (ANCA) against proteinase 3 (PR3) and myeloperoxidase (MPO). In small vessel vasculitis (SVV), ANCA are not present in all patients, and they are rarely detected in patients with vasculitis involving medium (MVV) and large (LVV) blood vessels. Some studies have demonstrated that lysosome-associated membrane protein-2 (LAMP-2/CD107b) is a target of ANCA in SVV, but its presence and prognostic value in childhood MVV and LVV is not known...
March 28, 2024: International Journal of Molecular Sciences
#2
JOURNAL ARTICLE
Muhammad Abumanhal, Igal Leibovitch, Michael Zisapel, Tali Eviatar, Yonatan Edel, Ran Ben Cnaan
BACKGROUND: VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) is a hematoinflammatory disease that typically affects adults. It results from a somatic mutation of the E1 ubiquitin conjugating enzyme encoded by the UBA1 gene. VEXAS is frequently accompanied by myelodysplastic syndrome (MDS). The purpose of this study is to describe the ocular and orbital manifestations of VEXAS patients in a case series in our medical centre. METHODS: A retrospective chart review was performed for all patients who were diagnosed with VEXAS syndrome in a tertiary medical centre over two years...
March 28, 2024: Eye
#3
REVIEW
Lidia La Barbera, Chiara Rizzo, Federica Camarda, Giuseppe Miceli, Antonino Tuttolomondo, Giuliana Guggino
Large-vessel vasculitis (LVV) are autoimmune and autoinflammatory diseases focused on vascular inflammation. The central core of the intricate immunological and molecular network resides in the disruption of the "privileged immune state" of the arterial wall. The outbreak, initially primed by dendritic cells (DC), is then continuously powered in a feed-forward loop by the intimate cooperation between innate and adaptive immunity. If the role of adaptive immunity has been largely elucidated, knowledge of the critical function of innate immunity in LVV is still fragile...
February 1, 2024: Cells
#4
JOURNAL ARTICLE
Kim Lauper, Axel Finckh, Stéphane Genevay, Charlotte Girard-Guyonvarc'h, Romain Guemara, Michael J Nissen, Michele Iudici
In rheumatology, this year has been characterized by a broader knowledge of the pathogenesis of rheumatoid arthritis and mechanisms involved in the onset and persistence of low back pain. Studies relevant to the management of of gout, axial spondyloarthritis, autoinflammatory diseases and systemic vasculitides were published. New data on the safety of JAK inhibitors have been published. The ASAS-EULAR recommendations for the treatment of axial spondyloarthritis were updated, and the 2023 EULAR/PReS guidelines for the diagnosis and treatment of systemic juvenile idiopathic arthritis and adult-onset Still's disease are now available...
January 17, 2024: Revue Médicale Suisse
#5
JOURNAL ARTICLE
Natsuki Fukuda, Daisuke Kanai, Kaoru Hoshino, Yuriko Fukuda, Ryutaro Morita, Yuki Ishikawa, Tomohiko Kanaoka, Yoshiyuki Toya, Yohei Kirino, Hiromichi Wakui, Kouichi Tamura
BACKGROUND: Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is caused by mutations in the ubiquitin-activating enzyme1 (UBA1) gene and characterised by an overlap between autoinflammatory and haematologic disorders. CASE PRESENTATION: We reported a case of a 67-year-Japanese man receiving peritoneal dialysis (PD) who had recurrent aseptic peritonitis caused by the VEXAS syndrome. He presented with unexplained fevers, headache, abdominal pain, conjunctival hyperaemia, ocular pain, auricular pain, arthralgia, and inflammatory skin lesions...
January 11, 2024: BMC Nephrology
#6
Shojiro Ichimata, Yukiko Hata, Koji Yoshida, Ryo Tanaka, Naoki Nishida
A 28-year-old male was found dead in his bedroom. There were no anomalies in his birth and medical history, and there was no family history of sudden unexpected death (SUD). Autopsy showed subarachnoid hemorrhage (SAH) with basilar top inflammatory pseudoaneurysm rupture accompanied by fibrinoid necrosis in the aneurysm wall. Active and healed arteritides in small- to medium-sized arteries were identified in the brain, heart, and systemic connective tissue, which was consistent with polyarteritis nodosa (PAN)...
December 9, 2023: Cardiovascular Pathology: the Official Journal of the Society for Cardiovascular Pathology
#7
REVIEW
Ko-Ron Chen
Autoinflammatory diseases (AIDs) characterized by recurrent episodes of localized or systemic inflammation are disorders of the innate immune system. Skin lesions are commonly found in AIDs and cutaneous vasculitis can coexist with AIDs and even present as the most striking feature. This review aims to focus on the frequent cutaneous vasculitis association in three monogenic AIDs including familial Mediterranean fever (FMF), deficiency of adenosine deaminase type 2 (DADA2), and the recently identified adult-onset VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome...
November 13, 2023: Journal of Dermatology
#8
REVIEW
Qiaoqian Zeng, Haimei Liu, Guomin Li, Yifan Li, Wanzhen Guan, Tao Zhang, Yinv Gong, Xiaomei Zhang, Qianying Lv, Bingbing Wu, Hong Xu, Li Sun
BACKGROUND: Blau syndrome is a rare autoinflammatory disease caused by autosomal dominant mutations in the CARD15/NOD2 gene. Vascular involvement is a rare phenotype in Blau syndrome patients. In this study, we aimed to describe a 20-year- old Chinese girl with Blau syndrome complicated by renal arteritis. In addition, we summarized a literature review of published cases of vascular involvement in patients with Blau syndrome. CASE PRESENTATION: We describe a 20-year-old girl who was initially misdiagnosed with juvenile idiopathic arthritis (JIA) almost 15 years prior...
March 13, 2023: Pediatric Rheumatology Online Journal
#9
Chen Ru, Tangliang Qian, Xiaoping Liu, Chaoxin Wang, Weizhong Li, Xiujuan Hou, Chen Li
SAPHO syndrome is an autoinflammatory disease with a variety of clinical manifestations, which may be accompanied by other systemic inflammatory diseases in addition to the typical manifestations of common synovitis, acne, pustulosis, hyperostosis, and osteitis. Here, we report the first case of SAPHO syndrome combined with Takayasu arteritis.
February 22, 2023: International Journal of Rheumatic Diseases
#10
REVIEW
Qingxiang Liu, Yanyan Zheng, Jorg J Goronzy, Cornelia M Weyand
Immune aging is a complex process rendering the host susceptible to cancer, infection, and insufficient tissue repair. Many autoimmune diseases preferentially occur during the second half of life, counterintuitive to the concept of excess adaptive immunity driving immune-mediated tissue damage. T cells are particularly susceptible to aging-imposed changes, as they are under extreme proliferative pressure to fulfill the demands of clonal expansion and of homeostatic T cell repopulation. T cells in older adults have a footprint of genetic and epigenetic changes, lack mitochondrial fitness, and fail to maintain proteostasis, diverging them from host protection to host injury...
May 2023: Journal of Autoimmunity
#11
JOURNAL ARTICLE
Hiroki Yamaguchi, Daisuke Kobayashi, Gen Nakamura, Ryo Aida, Yosuke Horii, Takeshi Okamoto, Shuichi Murakami, Daisuke Kondo, Naomi Tsuchida, Yuri Uchiyama, Ayaka Maeda, Yohei Kirino, Naomichi Matsumoto, Yoichi Kurosawa, Eriko Hasegawa, Ayako Wakamatsu, Ichiei Narita
We describe the case of a 78 year-old man presenting with multiple edematous erythemas, fever, and arthralgia who subsequently developed neutrophil infiltration into the cartilage of the bilateral auricularis, consistent with relapsing polychondritis. A Skin biopsy of the erythema on his right arm showed dense neutrophilic infiltration into the dermis, while a bone marrow aspirate revealed myelodysplastic syndromes with characteristic vacuoles in myeloid precursor cells. Although the patient achieved remission with high-dose oral prednisolone, the inflammatory symptoms relapsed, and he was resistant to colchicine and cyclosporine...
October 20, 2022: Modern rheumatology case reports
#12
JOURNAL ARTICLE
Alexandre Fagart, Thomas Quemeneur, Guillaume Collet, Franck Demailly, Clementine Rousselin
VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is an adult-onset autoinflammatory disease caused by somatic UBA1 mutations first described in 2020. Most of these patients met clinical criteria for an inflammatory syndrome (relapsing polychondritis, Sweet syndrome, polyarteritis nodosa, or giant-cell arteritis) or a hematologic condition (myelodysplastic syndrome or multiple myeloma) or both. We described here an FDG PET/CT "leopard man" appearance, with abnormal marrow recruitment the findings, in a 70-year-old man diagnosed with a VEXAS syndrome...
January 1, 2023: Clinical Nuclear Medicine
#13
REVIEW
Ryu Watanabe, Manami Kiji, Motomu Hashimoto
Vasculitis is an inflammatory disorder of the blood vessels that causes damage to a wide variety of organs through tissue ischemia. Vasculitis is classified according to the size (large, medium, or small) of the blood vessels. In 2020, VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome, a novel autoinflammatory syndrome, was described. Somatic mutations in methionine-41 of UBA1, the major E1 enzyme that initiates ubiquitylation, are attributed to this disorder. This new disease entity connects seemingly unrelated conditions: inflammatory syndromes (relapsing chondritis, Sweet's syndrome, or neutrophilic dermatosis) and hematologic disorders (myelodysplastic syndrome or multiple myeloma)...
2022: Frontiers in Medicine
#14
REVIEW
Camila Andrea Guerrero-Bermúdez, Andrés Felipe Cardona-Cardona, Edwin Jesús Ariza-Parra, Juan Ignacio Arostegui, Anna Mensa-Vilaro, Jordi Yague, Gloria Vásquez, Carlos Horacio Muñoz-Vahos
Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome (VEXAS syndrome) is a recently described genetic disorder that gathers autoinflammatory symptoms and myeloid dysplasia. The first description was reported in 2020, and subsequently, a growing number of cases have been described worldwide. Herein, we describe a case of a 72-year-old male patient with VEXAS syndrome with p.Met41Val mutation of the UBA1 gene, prominent supraglottic larynx involvement, and costochondritis. To our knowledge, this is the first report of VEXAS syndrome in Colombia and South America...
November 2022: Clinical Rheumatology
#15
REVIEW
Andrea D Gloor, Gerald J Berry, Jorg J Goronzy, Cornelia M Weyand
Two vasculitides, giant cell arteritis (GCA) and Takayasu arteritis (TAK), are recognized as autoimmune and autoinflammatory diseases that manifest exclusively within the aorta and its large branches. In both entities, the age of the affected host is a critical risk factor. TAK manifests during the 2nd-4th decade of life, occurring while the immune system is at its height of performance. GCA is a disease of older individuals, with infrequent cases during the 6th decade and peak incidence during the 8th decade of life...
May 2022: Seminars in Immunopathology
#16
JOURNAL ARTICLE
Carolyn Ross, Hannah Laure Elfassy, Jean-Paul Makhzoum
No abstract text is available yet for this article.
October 2021: Journal of Rheumatology
#17
JOURNAL ARTICLE
Jayakanthan Kabeerdoss, Ruchika Goel, Hindumathi Mohan, Debashish Danda
Toll-like receptors (TLR) 4 and its endogenous ligands are highly expressed in aorta. In the present study, we have explored the effect of TLR-4 activation by pro-inflammatory and angiogenic factors in PBMCs of patients with Takayasu Arteritis (TA). In the screening cohort, PBMCs of TA (n = 6) and healthy controls (n = 6) were stimulated with LPS and cultured. mRNA expression of 84 genes were quantitated by RT2 Profiler™ PCR Array kit in PBMCs. Validation set of additional PBMCs from TA (n = 7) and healthy controls [HC) (n = 7) were then stimulated with LPS to study expression of selected genes with delta Ct > 0...
February 2, 2021: Rheumatology International
#18
REVIEW
Rossella Gratton, Paola Maura Tricarico, Adamo Pio d'Adamo, Anna Monica Bianco, Ronald Moura, Almerinda Agrelli, Lucas Brandão, Luisa Zupin, Sergio Crovella
Notch pathway is a highly conserved intracellular signaling route that modulates a vast variety of cellular processes including proliferation, differentiation, migration, cell fate and death. Recently, the presence of a strict crosstalk between Notch signaling and inflammation has been described, although the precise molecular mechanisms underlying this interplay have not yet been fully unravelled. Disruptions in Notch cascade, due both to direct mutations and/or to an altered regulation in the core components of Notch signaling, might lead to hypo- or hyperactivation of Notch target genes and signaling molecules, ultimately contributing to the onset of autoinflammatory diseases...
November 23, 2020: International Journal of Molecular Sciences
#19
JOURNAL ARTICLE
David B Beck, Marcela A Ferrada, Keith A Sikora, Amanda K Ombrello, Jason C Collins, Wuhong Pei, Nicholas Balanda, Daron L Ross, Daniela Ospina Cardona, Zhijie Wu, Bhavisha Patel, Kalpana Manthiram, Emma M Groarke, Fernanda Gutierrez-Rodrigues, Patrycja Hoffmann, Sofia Rosenzweig, Shuichiro Nakabo, Laura W Dillon, Christopher S Hourigan, Wanxia L Tsai, Sarthak Gupta, Carmelo Carmona-Rivera, Anthony J Asmar, Lisha Xu, Hirotsugu Oda, Wendy Goodspeed, Karyl S Barron, Michele Nehrebecky, Anne Jones, Ryan S Laird, Natalie Deuitch, Dorota Rowczenio, Emily Rominger, Kristina V Wells, Chyi-Chia R Lee, Weixin Wang, Megan Trick, James Mullikin, Gustaf Wigerblad, Stephen Brooks, Stefania Dell'Orso, Zuoming Deng, Jae J Chae, Alina Dulau-Florea, May C V Malicdan, Danica Novacic, Robert A Colbert, Mariana J Kaplan, Massimo Gadina, Sinisa Savic, Helen J Lachmann, Mones Abu-Asab, Benjamin D Solomon, Kyle Retterer, William A Gahl, Shawn M Burgess, Ivona Aksentijevich, Neal S Young, Katherine R Calvo, Achim Werner, Daniel L Kastner, Peter C Grayson
BACKGROUND: Adult-onset inflammatory syndromes often manifest with overlapping clinical features. Variants in ubiquitin-related genes, previously implicated in autoinflammatory disease, may define new disorders. METHODS: We analyzed peripheral-blood exome sequence data independent of clinical phenotype and inheritance pattern to identify deleterious mutations in ubiquitin-related genes. Sanger sequencing, immunoblotting, immunohistochemical testing, flow cytometry, and transcriptome and cytokine profiling were performed...
December 31, 2020: New England Journal of Medicine
#20
REVIEW
Ryu Watanabe, Gerald J Berry, David H Liang, Jörg J Goronzy, Cornelia M Weyand
Autoimmune and autoinflammatory diseases of the medium and large arteries, including the aorta, cause life-threatening complications due to vessel wall destruction but also by wall remodeling, such as the formation of wall-penetrating microvessels and lumen-stenosing neointima. The two most frequent large vessel vasculitides, giant cell arteritis (GCA) and Takayasu arteritis (TAK), are HLA-associated diseases, strongly suggestive for a critical role of T cells and antigen recognition in disease pathogenesis...
2020: Frontiers in Immunology
Make the most of Read.
Download the mobile app.
Download the mobile app.
Fetching more papers... 
