Childhood syndrome combining lung disease, arthritis identified

Using the latest genome sequencing techniques, a research team has identified a new autoimmune syndrome characterized by a combination of severe lung disease and arthritis. The hereditary disorder, which appears in early childhood, had never been diagnosed as a single syndrome. The new research revealed that it is caused by mutations in a single gene that disrupt how proteins are shuttled around within cells. Patients with the newly discovered syndrome have a poor prognosis, and at present can only be treated with anti-inflammatory and immunosuppressant drugs. Many have lung disease so severe that they must receive lung transplants.
Source: ScienceDaily Headlines - Category: Science Source Type: news

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Qiancheng Deng1, Yangyang Luo1,2, Christopher Chang3, Haijing Wu1, Yan Ding4* and Rong Xiao1* 1Hunan Key Laboratory of Medical Epigenetics, Department of Dermatology, The Second Xiangya Hospital, Central South University, Changsha, China 2Department of Dermatology, Hunan Children's Hospital, Changsha, China 3Division of Rheumatology, Allergy and Clinical Immunology, University of California, Davis, Davis, CA, United States 4Department of Dermatology, Hainan Provincial Dermatology Disease Hospital, Haikou, China Autoimmune diseases are usually complex and multifactorial, characterized by aberrant produc...
Source: Frontiers in Immunology - Category: Allergy & Immunology Source Type: research
Giuseppe Ristagno1*, Francesca Fumagalli1, Barbara Bottazzi2, Alberto Mantovani2,3,4, Davide Olivari1, Deborah Novelli1 and Roberto Latini1 1Department of Cardiovascular Research, Mario Negri Institute for Pharmacological Research IRCCS, Milan, Italy 2Humanitas Clinical and Research Center-IRCCS, Milan, Italy 3Humanitas University, Milan, Italy 4The William Harvey Research Institute, Queen Mary University of London, London, United Kingdom The long pentraxin PTX3 is a member of the pentraxin family produced locally by stromal and myeloid cells in response to proinflammatory signals and microbial moieties. The p...
Source: Frontiers in Immunology - Category: Allergy & Immunology Source Type: research
This study was supported in part by the Projects: Redes Internacionales (REDI170651) (to AH and MI); Proyecto interno Universidad Autónoma de Chile (DIUA 134-2018) and by the Pilot Research Grant (PP-1805-30965) from the National Multiple Sclerosis Society (to AH); Proyecto Genera-Autónoma N°UA 17-04 and FONDECYT de Inicio N° 11160592, CONICYT (to NE) and Proyecto Vicerrectoría de Investigación, Pontificia Universidad Católica de Chile Puente P1802 (to CL). Conflict of Interest Statement The authors declare that the research was conducted in the absence of any commercial or fina...
Source: Frontiers in Immunology - Category: Allergy & Immunology Source Type: research
In this study, we found that senescent chondrocytes isolated from OA patients secrete more EVs compared with nonsenescent chondrocytes. These EVs inhibit cartilage ECM deposition by healthy chondrocytes and can induce a senescent state in nearby cells. We profiled the miR and protein content of EVs isolated from the synovial fluid of OA joints from mice with SnCs. After treatment with a molecule to remove SnCs, termed a senolytic, the composition of EV-associated miR and protein was markedly altered. The senolytic reduced OA development and enhanced chondrogenesis, and these were attributable to several specific differenti...
Source: Fight Aging! - Category: Research Authors: Tags: Newsletters Source Type: blogs
Conclusions Lymphatic vessels, like blood vessels, are a highly interactive surface for cells of the immune system, and through the use of chemokines and their receptors can coordinate key interactions. These pathways can control the entry and function of particular immune subsets in a number of pathological conditions. Nonetheless LECs have distinct patterns of chemokine secretion and expression of chemokine receptors that distinguish them from the blood vessel system and mediate distinct roles and responses. The abundance and diversity of the chemokine family point to the likelihood that a plethora of novel chemokine fu...
Source: Frontiers in Immunology - Category: Allergy & Immunology Source Type: research
Discussion Suppressor of cytokine signaling 1 is an essential molecule for maintaining immune homeostasis and subverting inflammation. Disorders arising from excess inflammation or SOCS1 deficiency can be potentially treated with SOCS1 mimetics (Ahmed et al., 2015). While SOCS1 has promising potential in many disorders, it should be noted that new targets and actions of SOCS1 are still being discovered and not all the effects of this protein are beneficial in autoimmune diseases and cancer. For instance, SOCS1 degrades IRS1 and IRS2, required for insulin signaling, via the SOCS Box domain, thus, limiting its potential in ...
Source: Frontiers in Pharmacology - Category: Drugs & Pharmacology Source Type: research
Leukocyte telomere length (LTL), MUC5B rs35705950 and TOLLIP rs5743890 have been associated with idiopathic pulmonary fibrosis (IPF). In this observational cohort study, we assessed the associations between these genomic markers and outcomes of survival and rate of disease progression in patients with interstitial pneumonia with autoimmune features (IPAF, n=250) and connective tissue disease-associated interstitial lung disease (CTD-ILD, n=248). IPF (n=499) was used as a comparator. The LTL of IPAF and CTD-ILD patients (mean age-adjusted log-transformed T/S of –0.05±0.29 and –0.04±0.25, ...
Source: European Respiratory Journal - Category: Respiratory Medicine Authors: Tags: Interstitial and orphan lung disease Original Articles: Interstitial lung disease Source Type: research
In conclusion, the number of donor-specific IL-21 pc is associated with an increased risk of both early and late rejection, giving it the potential to be a new biomarker in kidney transplantation. Introduction Interleukin (IL)-21 is a pro-inflammatory cytokine and is produced by several T lymphocytes, including CD4+, T follicular helper (Tfh) and T-helper 17 (Th17) cells (1, 2). Natural killer T cells (NKT) cells and CD8+ T cells can also produce IL-21 (3–5). IL-21 has a diverse effect on a broad range of immune cells. IL-21 drives T and B cell dependent responses. This pleiotropic cytokine is crucial for T ...
Source: Frontiers in Immunology - Category: Allergy & Immunology Source Type: research
This study was provided by the Canadian Institutes of Health Research and the Manitoba Health Research Council. Conflict of Interest Statement The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. References 1. Sprent J, Kishimoto H. The thymus and central tolerance. Philos Trans R Soc Lond B Biol Sci. (2001) 356:609–16. doi: 10.1098/rstb.2001.0846 PubMed Abstract | CrossRef Full Text | Google Scholar 2. Sakaguchi S, Wing K, Miyara M. Regulatory T cells - a brief history and perspective. ...
Source: Frontiers in Immunology - Category: Allergy & Immunology Source Type: research
The objective of this report was to summarize current knowledge of CC, squamous intraepithelial lesions, and human papillomavirus (HPV) infection in non-HIV immunocompromised women to determine best practices for CC surveillance in this population and provide recommendations for screening. We evaluated those with solid organ transplant, hematopoietic stem cell transplant, and a number of autoimmune diseases. A panel of health care professionals involved in CC research and care was assembled to review and discuss existing literature on the subject and come to conclusions about screening based on available evidence and expe...
Source: Journal of Lower Genital Tract Disease - Category: OBGYN Tags: HPV-Associated Disease: Diagnosis and Management Source Type: research
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