Abstract：
:The title of this section, "New genetic interpretation of old diseases," perfectly reflects the unique history of our understanding of autoinflammatory diseases (AIDs). Indeed, the main clinical feature of most AIDs is the recurrent fever, a symptom that has been extensively documented for centuries. However, the first clear description of a patient suffering from the AID prototype, familial Mediterranean fever (FMF), has only been reported in 1908, although dating studies have shown that ancestral mutations appeared in biblical times. FMF and 11 other AID genes were identified between 1997 and 2011. The patient's care has dramatically benefited from the elucidation of the molecular defect underlying similar diseases of the innate immune system. However, accumulation of present and future sequence data let us anticipate that interpretation of genetic diagnosis will be increasingly difficult.
journal_name
Autoimmun Revjournal_title
Autoimmunity reviewsauthors
Touitou Idoi
10.1016/j.autrev.2012.07.014subject
Has Abstractpub_date
2012-11-01 00:00:00pages
5-9issue
1eissn
1568-9972issn
1873-0183pii
S1568-9972(12)00150-4journal_volume
12pub_type
历史文章,杂志文章,评审abstract：:Antimalarials have been an effective and safe treatment for autoimmune rheumatic diseases such as systemic lupus erythematosus for more than a hundred years. There are surprisingly few reports of hydroxychloroquine use in the systemic vasculitides. Hydroxychloroquine has antithrombotic, cardiovascular, antimicrobial a...
journal_title：Autoimmunity reviews
pub_type： 杂志文章,评审
doi：10.1016/j.autrev.2018.01.016
更新日期：2018-07-01 00:00:00
abstract：:Autoimmunity causes pathological conditions resulting in autoimmune diseases (ADs). Although autoimmunity is a mystery, immunological dogma suggests that autoreactive cell reactivation (ACR) breaks self-tolerance and induces autoimmunity. Thus, ACR is a royal pathway for ADs. Cumulative evidence implicates environment...
journal_title：Autoimmunity reviews
pub_type： 杂志文章
doi：10.1016/j.autrev.2014.08.024
更新日期：2014-10-01 00:00:00
abstract：:Anti-neutrophil cytoplasmic antibodies (ANCA) are a family of autoantibodies that react with proteins predominantly expressed in cytoplasmic granules of polymorphonuclear neutrophil granulocytes (PMNs). ANCA was initially detected using indirect immunofluorescence, allowing for different patterns such as p-ANCA (perin...
journal_title：Autoimmunity reviews
pub_type： 杂志文章,评审
doi：10.1016/j.autrev.2016.07.016
更新日期：2016-10-01 00:00:00
abstract：OBJECTIVE:To describe the clinical and immunologic features of 6 patients with rheumatic disease and Hepatitis C Virus (HCV) chronic infection, treated with anti-TNF alpha drugs. PATIENTS AND METHODS:Six patients, with repeated positive serology for HCV infection, were affected by Rheumatoid arthritis (RA) (4 cases), ...
journal_title：Autoimmunity reviews
pub_type： 杂志文章
doi：10.1016/j.autrev.2008.05.002
更新日期：2008-12-01 00:00:00
abstract：:Macrophages are divided into several functional subtypes involved in host defence, wound healing and immune regulation. In an alternate view, increased understanding of macrophage biology can also be gained by including anatomical location as a parameter. The focus of this review lies on tolerogenic features of macrop...
journal_title：Autoimmunity reviews
pub_type： 杂志文章,评审
doi：10.1016/j.autrev.2009.03.004
更新日期：2009-09-01 00:00:00
abstract：:Circulating antibodies specific to retinal proteins have been associated with retinal dysfunction in patients with retinopathy. Anti-recoverin antibodies found in patients with cancer-associated retinopathy (CAR) represent a unique model to study the relationship between retinal degeneration and autoimmunity. A body o...
journal_title：Autoimmunity reviews
pub_type： 杂志文章,评审
doi：10.1016/s1568-9972(02)00127-1
更新日期：2003-03-01 00:00:00
abstract：:IgG4-related disease is a distinct clinical entity, whose characteristic features are the following; Serum IgG4 is prominently elevated, IgG4-positive plasma cells infiltrate in involved tissues, various mass-forming lesions with fibrosis develop in a timely and spatial manner and the response to corticosteroids is pr...
journal_title：Autoimmunity reviews
pub_type： 杂志文章,评审
doi：10.1016/j.autrev.2010.05.003
更新日期：2010-07-01 00:00:00
abstract：OBJECTIVE:Since characterization of the extent to which particular combinations of autoimmune diseases (ADs) occur in excess of that expected by chance may offer new insights into possible common pathophysiological mechanisms, polyautoimmunity (i.e., ADs co-occurring within patients) in systemic lupus erythematosus (SL...
journal_title：Autoimmunity reviews
pub_type： 杂志文章
doi：10.1016/j.autrev.2009.10.001
更新日期：2010-02-01 00:00:00
abstract：:Impaired clearance of apoptotic cell material has been implicated in the pathogenesis of systemic lupus erythematosus (SLE). Besides many other molecules, C1q and DNaseI contribute to an efficient clearance of dying cells. A frequently observed factor in SLE patients is the accumulation of unusually large amounts of a...
journal_title：Autoimmunity reviews
pub_type： 杂志文章,评审
doi：10.1016/j.autrev.2004.10.007
更新日期：2005-04-01 00:00:00
abstract：:Antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) constitutes a group of rare diseases characterized by necrotizing inflammation of small blood vessels and the presence of ANCA. Although these autoantibodies were initially used to classify pauci-immune vasculitis, increasing clinical and experimen...
journal_title：Autoimmunity reviews
pub_type： 杂志文章,评审
doi：10.1016/j.autrev.2016.03.007
更新日期：2016-07-01 00:00:00
abstract：:Parkinson's disease, Alzheimer's disease and other neurodegenerative disorders share a common pathologic pathway with aggregation and deposition of misfolded proteins causing a disruption of particular neuronal networks. Several mechanisms have been implicated in the down-stream events following deposition of misfolde...
journal_title：Autoimmunity reviews
pub_type： 杂志文章,评审
doi：10.1016/j.autrev.2008.04.010
更新日期：2008-06-01 00:00:00
abstract：:The complement system is profoundly involved in the pathogenesis of acetylcholine receptor (AChR) antibody (Ab) related myasthenia gravis (MG) and its animal model experimental autoimmune myasthenia gravis (EAMG). The most characteristic finding of muscle pathology in both MG and EAMG is the abundance of IgG and compl...
journal_title：Autoimmunity reviews
pub_type： 杂志文章,评审
doi：10.1016/j.autrev.2013.03.003
更新日期：2013-07-01 00:00:00
abstract：:Immune thrombocytopenia (ITP) is a rare autoimmune disease due to an abnormal T cell response, notably supported by splenic T follicular helper cells, that stimulates the proliferation and differentiation of autoreactive B cells. The antiplatelet autoantibodies they produce facilitate platelet phagocytosis by macropha...
journal_title：Autoimmunity reviews
pub_type： 杂志文章,评审
doi：10.1016/j.autrev.2017.04.012
更新日期：2017-06-01 00:00:00
abstract：:Mixed cryoglobulinemia (MC) is a systemic small-vessel vasculitis; B-cell expansion is the biological substrate of the disease. It can be regarded as benign lymphoproliferative condition that may evolve to frank lymphoma. HCV infection is the main causative factor of MC, as well as of other overlapping disorders, thro...
journal_title：Autoimmunity reviews
pub_type： 杂志文章,评审
doi：10.1016/j.autrev.2007.02.019
更新日期：2007-12-01 00:00:00
abstract：:Successful therapy of dementia, like any disease, depends upon understanding its pathogenesis. This review contrasts the dominant pathways to dementia which differ in Alzheimer's disease (AD) and in Down's syndrome (DS). Impaired clearance of neurotoxic amyloid beta peptides (Abeta) leads to dementia in AD. In DS over...
journal_title：Autoimmunity reviews
pub_type： 杂志文章,评审
doi：10.1016/j.autrev.2012.10.013
更新日期：2013-04-01 00:00:00
abstract：:Inflammatory bowel diseases (IBD) are chronic diseases of the intestinal tract which principally are composed of ulcerative colitis (UC) and Crohn's disease (CD). The prevalence and incidence of both forms of IBD have historically been higher in developed countries with decreasing North-South gradient. However, more r...
journal_title：Autoimmunity reviews
pub_type： 杂志文章,评审
doi：10.1016/j.autrev.2009.11.008
更新日期：2010-03-01 00:00:00
abstract：:Alpha-actinin (α-actinin) is a ubiquitous cytoskeletal protein, which belongs to the superfamily of filamentous actin (F-actin) crosslinking proteins. It is present in multiple subcellular regions of both muscle and non-muscle cells, including cell-cell and cell-matrix contact sites, cellular protrusions and stress fi...
journal_title：Autoimmunity reviews
pub_type： 杂志文章,评审
doi：10.1016/j.autrev.2010.12.009
更新日期：2011-05-01 00:00:00
abstract：:Rheumatoid arthritis (RA) is a chronic inflammatory joint disease characterized by a distinctive pattern of bone and joint destruction. RA patients have an increased risk of death. The incidence and prevalence of RA vary across populations, statistical methods, and disease definitions. In North America and Northern Eu...
journal_title：Autoimmunity reviews
pub_type： 杂志文章,评审
doi：10.1016/j.autrev.2009.11.019
更新日期：2010-03-01 00:00:00
abstract：:While the relationship between maternal connective tissue diseases and neonatal rashes was described in the 1960s and congenital heart block in the 1970s, the "culprit" antibody reactivity to the SSA/Ro-SSB/La ribonucleoprotein complex was not identified until the 1980s. However, studies have shown that approximately ...
journal_title：Autoimmunity reviews
pub_type： 杂志文章,评审
doi：10.1016/j.autrev.2017.07.013
更新日期：2017-09-01 00:00:00
abstract：:Autoimmunity is influenced by multiple factors including gender and sex hormones. A definite female predominance is found in many autoimmune diseases. Gender is also associated with differences in clinical presentation, onset, progression and outcome of autoimmune diseases. Sex hormones might influence the target orga...
journal_title：Autoimmunity reviews
pub_type： 杂志文章,评审
doi：10.1016/j.autrev.2011.11.001
更新日期：2012-05-01 00:00:00
abstract：:Type 1 diabetes (T1D) and the autoimmune thyroid diseases (AITD) are the most common autoimmune endocrine diseases. Both are organ-specific T-cell mediated diseases. Abundant epidemiological data support a strong genetic basis for both T1D and AITD. Furthermore, both diseases commonly occur in the same individuals and...
journal_title：Autoimmunity reviews
pub_type： 杂志文章,评审
doi：10.1016/s1568-9972(03)00080-6
更新日期：2003-10-01 00:00:00
abstract：:Scleroderma renal crisis (SRC) is an uncommon but still life-threatening manifestation of systemic sclerosis (SSc). The incidence of SRC has decreased in the last few decades, probably due to a widespread use of vasodilators in SSc patients. It is well-recognized that exposure to different drugs can trigger SRC (corti...
journal_title：Autoimmunity reviews
pub_type： 杂志文章,评审
doi：10.1016/j.autrev.2018.03.012
更新日期：2018-09-01 00:00:00
abstract：:Cytotoxic T-Lymphocye Antigen 4 (CTLA-4) or CD152 is an inhibitory molecule that plays a critical role in maintenance of tolerance to self-antigens. CTLA-4 is structurally as well as functionally related to CD28, since it shares 31% of homology and binds the B7 family molecules CD80 and CD86 with higher affinity. Neve...
journal_title：Autoimmunity reviews
pub_type： 杂志文章,评审
doi：10.1016/j.autrev.2013.07.002
更新日期：2013-10-01 00:00:00
abstract：BACKGROUND:Adrenal insufficiency (AI) is associated with high morbidity and mortality. The aim of this systematic review was to enhance diagnostic approaches and summarize therapeutic strategies in the management of AI in patients with systematic lupus erythematosus (SLE) or antiphospholipid syndrome (APS). METHODS:A ...
journal_title：Autoimmunity reviews
pub_type： 杂志文章
doi：10.1016/j.autrev.2018.06.014
更新日期：2019-01-01 00:00:00
abstract：:Disorders of peripheral nervous system in patients with systemic lupus erythematosus (PNS-SLE) are a major cause of morbidity. The aims of the present study were to determine the prevalence of PNS-SLE involvement in a large cohort of SLE patients from a single centre, to characterize such involvement, treatment modali...
journal_title：Autoimmunity reviews
pub_type： 杂志文章
doi：10.1016/j.autrev.2017.05.011
更新日期：2017-07-01 00:00:00
abstract：:Fas is a transmembrane receptor involved in the death program of several cell lines, including T lymphocytes. Deleterious mutations hitting genes involved in the Fas pathway cause the autoimmune lymphoprolipherative syndrome (ALPS). Moreover, defective Fas function is involved in the development of common autoimmune d...
journal_title：Autoimmunity reviews
pub_type： 杂志文章,评审
doi：10.1016/j.autrev.2011.08.011
更新日期：2012-12-01 00:00:00
abstract：:Effective immune responses require the appropriate activation and differentiation of peripheral CD4(+) T cells. These processes need to be followed by the timely elimination of the responding T cells in order to restore T cell homeostasis. Defects in the appropriate regulation of T cell activation, expansion, and surv...
journal_title：Autoimmunity reviews
pub_type： 杂志文章,评审
doi：10.1016/j.autrev.2008.07.044
更新日期：2009-01-01 00:00:00
abstract：:Sex and gender differences in disease prevalence, pathogenesis and modulation have been frequently reported. The menstrual cycle represents the opportunity to study the physiological effect of hormonal fluctuations in vivo on the immune function and chronic disease modulation. Reports on the effect of the cycle on imm...
journal_title：Autoimmunity reviews
pub_type： 杂志文章,评审
doi：10.1016/j.autrev.2011.11.023
更新日期：2012-05-01 00:00:00
abstract：:Autoinflammatory diseases (AIDs) are a group of distinct hereditable disorders characterized by unexplained, recurrent episodes of fever and severe inflammation, most commonly involving skin, joints, gut, and eyes. Mutations in inflammasome-related proteins, particularly in NOD-like receptor (NLR) genes, have been str...
journal_title：Autoimmunity reviews
pub_type：
doi：10.1016/j.autrev.2012.07.013
更新日期：2012-11-01 00:00:00
abstract：:Stress is defined as the pscyophysiological reaction in which the steady state is disturbed or threatened. Stress is not always perceived as a negative response. Stress results when environmental demands exceed an individuals' adaptive capacities. Autoimmune diseases are heterogeneous group of chronic diseases which o...
journal_title：Autoimmunity reviews
pub_type： 杂志文章,评审
doi：10.1016/j.autrev.2018.04.005
更新日期：2018-10-01 00:00:00
