Article
Rheumatology
Tanaz A. Kermani, David Cuthbertson, Simon Carette, Nader A. Khalidi, Curry L. Koening, Carol A. Langford, Carol A. McAlear, Paul A. Monach, Larry Moreland, Christian Pagnoux, Philip Seo, Ulrich Specks, Antoine Sreih, Kenneth J. Warrington, Peter A. Merkel
Summary: This study included 2085 patients with vasculitis and found that 10% of patients also had hypothyroidism, with a higher prevalence among female patients. The risk of hypothyroidism varied among different types of vasculitis, possibly due to genetic susceptibilities or immune responses. The study also confirmed an association of hypothyroidism with MPO-ANCA in ANCA-associated vasculitis.
Article
Immunology
Sung Soo Ahn, Minkyung Han, Juyoung Yoo, Yong-Beom Park, Inkyung Jung, Sang-Won Lee
Summary: Objective data suggest that the risk of stroke is heightened in patients with autoimmune rheumatic diseases, particularly in those with systemic necrotizing vasculitis (SNV). Older age and a diagnosis of microscopic polyangiitis (MPA) were associated with an increased risk of stroke, while the use of immunosuppressive medications and statins may help prevent strokes in SNV patients.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Medicine, General & Internal
Jang Woo Ha, Yong-Beom Park, Sang-Won Lee
Summary: This study demonstrates, for the first time, that 83.3% of ANCA-positive patients with PM/DM could be diagnosed with overlap syndrome consisting of PM/DM and AAV according to the 2022 ACR/EULAR criteria for AAV.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Urology & Nephrology
Ebru Dirikgil, Jacqueline T. Jonker, Sander W. Tas, Cornelis A. Verburgh, Darius Soonawala, A. Elisabeth Hak, Hilde H. F. Remmelts, Daphne IJpelaar, Gozewijn D. Laverman, Abraham Rutgers, Jacob M. van Laar, Hein J. Bernelot Moen, Peter M. J. Verhoeven, Ton J. Rabelink, Willem Jan W. Bos, Y. K. Onno Teng
Summary: The study investigated the real-life management and outcomes of AAV patients in the Netherlands, revealing oral cyclophosphamide as the most frequently used induction therapy, azathioprine for maintenance therapy, and an increasing use of rituximab over time. Major infection and relapses were found to be the most prevalent adverse outcomes. This audit provided important indicators for the treatment of AAV patients that can be implemented in future national audits to improve patient outcomes.
KIDNEY INTERNATIONAL REPORTS
(2021)
Article
Medicine, General & Internal
Jang-Woo Ha, Sung-Soo Ahn, Jason-Jungsik Song, Yong-Beom Park, Sang-Won Lee
Summary: This study investigates the prognostic value of total globulin fraction (TGF) at diagnosis on all-cause mortality in patients with ANCA-associated vasculitis (AAV). The results show that TGF at AAV diagnosis is significantly correlated with ANCA positivity and patients with TGF ≥ 3.1 g/dL have a lower cumulative survival rate. In the multivariable analysis, TGF ≥ 3.1 g/dL is independently associated with all-cause mortality, along with age, male sex, and body mass index.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Medicine, General & Internal
Tae-Geom Lee, Pil-Gyu Park, Yong-Beom Park, Ji-Hye Huh, Sang-Won Lee
Summary: This study investigated whether the BARD score at diagnosis could predict all-cause mortality in patients with antineutrophil cytoplasmic antibody-associated vasculitis (AAV). The study found that among AAV patients, a BARD score ≥ 3 could predict all-cause mortality during follow-up.
JOURNAL OF CLINICAL MEDICINE
(2023)
Review
Rheumatology
M. Moretti, E. Treppo, S. Monti, G. La Rocca, G. Del Frate, P. Delvino, N. Italiano, F. Di Cianni, F. D'Alessandro, R. Talarico, F. Ferro, L. Quartuccio, C. Baldini
Summary: Systemic vasculitides are diverse and disabling diseases characterized by chronic inflammation of blood vessels, which can result in tissue damage and organ failure. The COVID-19 pandemic has greatly impacted the epidemiology and management of patients with systemic vasculitis. New research has also provided insights into the pathogenesis of systemic vasculitis, potential therapeutic targets, and safer glucocorticoid-sparing treatments. This review critically evaluates recent literature on the pathophysiology, clinical manifestations, diagnostic tools, and treatment options for small and large vessel vasculitis, with a focus on precision medicine in vasculitis.
CLINICAL AND EXPERIMENTAL RHEUMATOLOGY
(2023)
Review
Rheumatology
G. La Rocca, G. Del Frate, P. Delvino, F. Di Cianni, M. Moretti, N. Italiano, E. Treppo, S. Monti, R. Talarico, F. Ferro, L. Quartuccio, C. Baldini
Summary: This review critically summarizes the recent literature on systemic vasculitis, including its pathophysiology, clinical manifestations, diagnostic tools, and treatment options.
CLINICAL AND EXPERIMENTAL RHEUMATOLOGY
(2022)
Article
Gastroenterology & Hepatology
Hiroko Sato, Tsuyoshi Shirai, Hiroshi Fujii, Tomonori Ishii, Hideo Harigae
Summary: Immediate discontinuation of CPA and intensive supportive therapy are crucial for the survival of patients with CPA-associated severe enteritis.
WORLD JOURNAL OF GASTROENTEROLOGY
(2021)
Article
Medicine, General & Internal
Lucy Eunju Lee, Wooyong Jeong, Yong-Beom Park, Su Jin Jeong, Sang-Won Lee
Summary: This study investigates the rate of ANCA positivity in patients infected with SARS-CoV-2 and its clinical significance. The results showed that SARS-CoV-2 infection may increase the rate of ANCA positivity, but it does not affect poor outcomes. ANCA positivity may contribute to the classification of granulomatosis with polyangiitis and microscopic polyangiitis.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Urology & Nephrology
Hyo Jin Kim, Miyeun Han, Sang Heon Song, Eun Young Seong
Summary: This study investigated the clinical characteristics and outcomes of patients aged >= 65 years with ANCA-positive AAV in Korea. The results showed that patients in the elderly group had higher mortality rates, and older age, lower hemoglobin, higher serum creatinine level, and nontreatment were associated with mortality compared to oral CYC + steroids.
KIDNEY RESEARCH AND CLINICAL PRACTICE
(2022)
Review
Immunology
Yasuhiro Shimojima, Yoshiki Sekijima
Summary: Hypertrophic pachymeningitis (HP) is an inflammatory disorder characterized by intracranial and spinal thickened dura mater, leading to neurological manifestations. Antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) is linked to the development of immune-mediated HP. HP can be observed throughout the clinical course of AAV, with ear, nose, and throat manifestations and mucous membranes/eyes manifestations being associated with HP. Corticosteroids are the first-line therapy for ANCA-related HP, and immunosuppressive agents can be used for achieving remission.
AUTOIMMUNITY REVIEWS
(2023)
Article
Medicine, General & Internal
Lirong Lin, Rongjie Yu, Luquan Zheng, Shuyu Gong, Jurong Yang
Summary: EGPA can present with a rare initial presentation of oral granuloma. Methylprednisolone and cyclophosphamide can be a suitable choice of treatment.
FRONTIERS IN MEDICINE
(2022)
Article
Medicine, General & Internal
Fabricio Benavides-Villanueva, Javier Loricera, Vanesa Calvo-Rio, Cristina Corrales-Selaya, Santos Castaneda, Ricardo Blanco
Summary: The aim of this study was to assess the effectiveness and safety of intravenous immunoglobulins (IVIG) in the treatment of anti-neutrophil cytoplasmic antibodies (ANCA)-associated vasculitis (AAV). The results showed that IVIG is an effective and relatively safe therapeutic option for patients with relapsing/refractory AAV or concomitant active infection.
EUROPEAN JOURNAL OF INTERNAL MEDICINE
(2023)
Review
Immunology
Weiran Li, He Huang, Minglong Cai, Tao Yuan, Yujun Sheng
Summary: Antineutrophil cytoplasmic antibody-associated vasculitis (AAV) is characterized by inflammation of small and medium vessels and the presence of specific antibodies in circulation. Genetic factors, including variations in MHC and non-MHC regions, play an important role in AAV pathogenesis. Different clinical subtypes of AAV have distinct genetic backgrounds associated with specific human leukocyte antigen alleles. These findings could aid in understanding the etiology of AAV and developing new biomarkers for diagnosis and targeted therapy.
FRONTIERS IN IMMUNOLOGY
(2021)
Editorial Material
Health Care Sciences & Services
Adam Henschke, Jane Desborough, Anne Parkinson, Crystal Brunoro, Vanessa Fanning, Christian Lueck, Nicola Brew-Sam, Anne Brustle, Janet Drew, Katrina Chisholm, Mark Elisha, Hanna Suominen, Antonio Tricoli, Christine Phillips, Matthew Cook
Summary: The research identifies five experiential themes of PwMS and interprets these themes based on the foundations of personalized medicine, providing a roadmap for implementing personalized medicine solutions for PwMS.
JOURNAL OF PERSONALIZED MEDICINE
(2021)
Article
Genetics & Heredity
Todor Arsov, Jadranka Kelecic, Sanda Huljev Frkovic, Mario Sestan, Nastasia Kifer, Dan Andrews, Marcin Adamski, Marija Jelusic, Matthew C. Cook
Summary: This case report presents a rare syndrome of congenital syndromic asplenia associated with immune deficiency, glandular hypospadias, and cryptorchidism, with a likely pathogenic de novo variant in the NR2F2 gene identified through genetic analysis. The study expands the clinical spectrum of NR2F2 in humans to include asplenia, with previous associations in animal models.
EUROPEAN JOURNAL OF MEDICAL GENETICS
(2021)
Article
Pathology
C. Wilson, W. Lee, M. C. Cook, L. Smyth, D. Talaulikar
Summary: This study aimed to assess the correlation between the amount of haemophagocytosis identified in bone marrow and the HLH-2004 criteria. The findings indicate that the amount of haemophagocytosis present on bone marrow samples correlates with the number of HLH-2004 criteria. The study also highlights the need for recommendations to improve the consistency in reporting haemophagocytosis.
Review
Immunology
Yuwei Hao, Matthew C. Cook
Summary: Understanding the relationship between genotype and phenotype in patients with rare immune disorders is crucial for unraveling mechanisms of immune regulation. This study focuses on autosomal dominant and recessive IEIs, investigating the complex genotype-phenotype relationships and the occurrence of phenocopies. The research highlights the importance of studying drug-induced phenocopies in cancer patients treated with immune checkpoint inhibitors to gain further insights into disease mechanisms.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Immunology
Klaus Warnatz, Stephen Jolles, Carlo Agostini, Fabrizio Vianello, Michael Borte, Claire Bethune, Sofia Grigoriadou, Alex Richter, Rashmi Jain, David M. Lowe, Constance Katelaris, Cinzia Milito, Matthew C. Cook
Summary: The study compared the impact of immunoglobulin treatment administered via pump or rapid push injection, with findings showing that rapid push had more frequent administrations but lower total time expenditure and some costs, and performed better in some aspects of quality of life and treatment interference.
CLINICAL IMMUNOLOGY
(2022)
Editorial Material
Medicine, General & Internal
Liza Goncharov, Hanna Suominen, Matthew Cook
Summary: Dynamic consent has the potential to facilitate the achievement of personalized medicine goals.
MEDICAL JOURNAL OF AUSTRALIA
(2022)
Article
Multidisciplinary Sciences
Grant J. Brown, Pablo F. Canete, Hao Wang, Arti Medhavy, Josiah Bones, Jonathan A. Roco, Yuke He, Yuting Qin, Jean Cappello, Julia I. Ellyard, Katharine Bassett, Qian Shen, Gaetan Burgio, Yaoyuan Zhang, Cynthia Turnbull, Xiangpeng Meng, Phil Wu, Eun Cho, Lisa A. Miosge, T. Daniel Andrews, Matt A. Field, Denis Tvorogov, Angel F. Lopez, Jeffrey J. Babon, Cristina Aparicio Lopez, Africa Gonzalez-Murillo, Daniel Clemente Garulo, Virginia Pascual, Tess Levy, Eric J. Mallack, Daniel G. Calame, Timothy Lotze, James R. Lupski, Huihua Ding, Tomalika R. Ullah, Giles D. Walters, Mark E. Koina, Matthew C. Cook, Nan Shen, Carmen de Lucas Collantes, Ben Corry, Michael P. Gantier, Vicki Athanasopoulos, Carola G. Vinuesa
Summary: Enhanced Toll-like receptor 7 (TLR7) signaling has been associated with human systemic autoimmune disease, but evidence of TLR7 gene variants causing lupus is lacking. In this study, researchers identified a newly described TLR7(Y264H) variant that increased sensing of guanosine and 2',3'-cGMP and was sufficient to cause lupus in mice. Enhanced TLR7 signaling was shown to drive aberrant B cell survival and the accumulation of specific B cell subsets, while deficiency of the downstream adapter protein MyD88 rescued autoimmunity and all phenotypes. The study highlights the importance of TLR7 and guanosine-containing self-ligands in the pathogenesis of lupus and suggests potential therapeutic targets.
Article
Immunology
Tariq Al Farsi, Khwater Ahmed, Jalila Alshekaili, Mahmood Al Kindi, Matthew Cook, Aliya Al-Hosni, Zainab Ansari, Iman Nasr, Nashat Al Sukaiti
Summary: This study retrospectively reports the clinical features and outcomes of 239 Omani patients with IEI. The incidence and epidemiological characteristics of IEI in Oman are associated with consanguinity. Immune dysregulation is a common manifestation in these patients and early detection and intervention can improve patient outcomes.
FRONTIERS IN IMMUNOLOGY
(2022)
Review
Medicine, General & Internal
Tergel Namsrai, Jane Desborough, Anita Chalmers, Christine Lowe, Matthew Cook, Christine Phillips, Anne Parkinson
Summary: This study aims to review the diagnostic delay in idiopathic inflammatory myopathies (IIM) and provide an overview of patients' experiences, causes, and consequences of diagnostic delay in myositis. The lack of accurate diagnostic tests and unified diagnostic criteria for IIM may lead to delays in diagnosis.
Article
Medicine, General & Internal
Nicola Brew-Sam, Anne Parkinson, Christian Lueck, Ellen Brown, Karen Brown, Anne Bruestle, Katrina Chisholm, Simone Collins, Matthew Cook, Eleni Daskalaki, Janet Drew, Harry Ebbeck, Mark Elisha, Vanessa Fanning, Adam Henschke, Jessica Herron, Emma Matthews, Krishnan Murugappan, Dragomir Neshev, Christopher J. Nolan, Lachlan Pedley, Christine Phillips, Hanna Suominen, Antonio Tricoli, Kristine Wright, Jane Desborough
Summary: Precision medicine and personalized medicine are key concepts in health-related research, but their application and interpretation vary across disciplines, leading to confusion regarding their use and distinction.
Review
Pediatrics
Yitong Shen, Anne P. R. Boulton, Robert L. L. Yellon, Matthew C. C. Cook
Summary: This article summarizes over 400 single gene defects that are inborn errors of immunity, including those affecting NF-kappa B activity. The authors provide an overview of the skin phenotypes in these disorders and discuss the underlying mechanisms.
FRONTIERS IN PEDIATRICS
(2023)
Review
Multidisciplinary Sciences
Tergel Namsrai, Christine Phillips, Jane Desborough, Dianne M. Gregory, Elaine Kelly, Matthew Cook, Anne Parkinson
Summary: This study aims to systematically review the evidence on diagnostic delay in sarcoidosis to elucidate the factors associated with diagnostic delay and the consequences for people with sarcoidosis in different contexts and settings.
Article
Immunology
Yuwei Hao, Bahar Miraghazadeh, Rochna Chand, Ainsley R. Davies, Chelisa Cardinez, Kristy Kwong, Morgan B. Downes, Rebecca A. Sweet, Pablo F. Canete, Lloyd J. D'Orsogna, David A. Fulcher, Sharon Choo, Desmond Yip, Geoffrey Peters, Sonia Yip, Matthew J. Witney, Maxim Nekrasov, Zhi-Ping Feng, David C. Tscharke, Carola G. Vinuesa, Matthew C. Cook
Summary: Chronic antigenic stimulation in primary antibody deficiency (PAD) patients provides insights into T-cell differentiation and how environmental exposures modify clinical phenotypes caused by single-gene defects. CD57 marks dysfunctional T cells that have differentiated after antigenic stimulation. CD57(+) CD4(+) T cells are increased in PAD patients and significantly increased with CTLA4 haploinsufficiency or blockade, exhibiting a cytotoxic transcriptome similar to CD8(+) effector cells, killing B cells, and inhibiting B-cell responses. CTLA4 restrains the formation of cytotoxic CD4(+) T cells.
CELLULAR & MOLECULAR IMMUNOLOGY
(2023)
Article
Immunology
Yi Tong V. Aw, Phillip J. Whiley, Ayla May Lorenzo, Tom Lea-Henry, Somasundhari Shanmuganandam, Maurice Stanley, Sonia N. Babu, Vicki Athanasopoulos, Jean Cappello, Julia I. Ellyard, Matthew Cook, Carola Vinuesa, Giles Walters, David A. Fulcher, Simon H. Jiang
Summary: SLE patients with and without lupus nephritis exhibit distinct immunologic differences, which may reflect the unique pathophysiological processes contributing to disease manifestations.
RHEUMATOLOGY & AUTOIMMUNITY
(2023)
Article
Immunology
Rushika C. Wirasinha, Ainsley R. Davies, Monika Srivastava, Julie M. Sheridan, Xavier Y. X. Sng, Ottavia M. Delmonte, Kerry Dobbs, Khai L. Loh, Lisa A. Miosge, Cindy Eunhee Lee, Rochna Chand, Anna Chan, Jin Yan Yap, Michael D. Keller, Karin Chen, Jamie Rossjohn, Nicole L. La Gruta, Carola G. Vinuesa, Hugh H. Reid, Michail S. Lionakis, Luigi D. Notarangelo, Daniel H. D. Gray, Christopher C. Goodnow, Matthew C. Cook, Stephen R. Daley
Summary: Mutations in the p100 degron domain increase degradation resistance and lead to autoimmune diseases in mice. Both affected humans and mice show a hydrophobic signature of increased self-reactivity in their T cell receptor repertoires.
JOURNAL OF EXPERIMENTAL MEDICINE
(2021)
