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Genetics of refractory SLE

Vladimir Tesar, Zdenka Hruskova
BACKGROUND: Lupus nephritis (LN) is still associated with significant mortality and substantial risk of progression to end-stage renal failure. Its outcome is related to the class and severity of LN and response to treatment, and it is poorer in patients with renal relapses. Ethnicity has a relatively well-defined impact on the outcome of the patients and their response to treatment and must always be taken into consideration in treatment decisions. SUMMARY: In this article, we provide a review of the impact of ethnicity on the prevalence of systemic lupus erythematosus (SLE), the proportion of patients with SLE developing LN, outcomes of SLE and LN and response of LN to treatment...
September 2015: Kidney Diseases
Zahra Habibagahi, Jamshid Ruzbeh, Vahide Yarmohammadi, Malihe Kamali, Mohammad Hassan Rastegar
Angioedema secondary to C1 inhibitor deficiency has been rarely reported to be associated with systemic lupus erythematosus. A genetic defect of C1 inhibitor produces hereditary angioedema, which is usually presented with cutaneous painless edema, but edema of the genital area, gastrointestinal and laryngeal tracts have also been reported. In lupus patients, angioedema may be the result of an acquired type of C1 inhibitor deficiency, most probably due to antibody formation directed against the C1 inhibitor molecule...
July 2015: Iranian Journal of Medical Sciences
Justine Munoz, Michel Rodière, Nadia Jeremiah, Frédéric Rieux-Laucat, Anthony Oojageer, Gillian I Rice, Flore Rozenberg, Yanick J Crow, Didier Bessis
IMPORTANCE: The type I interferonopathies comprise a recently recognized group of mendelian diseases characterized by an upregulation of type I interferon signaling. These monogenic phenotypes include classic Aicardi-Goutières syndrome and syndromic forms of systemic lupus erythematosus, including familial chilblain lupus and spondyloenchondrodysplasia. Dermatologic features provide a major diagnostic clue to this disease grouping, as exemplified by the recently described stimulator of interferon genes-associated vasculopathy with onset in infancy (SAVI) caused by gain-of-function mutations in TMEM173...
August 2015: JAMA Dermatology
Sohair K Sayed, Sherif H Galal, Omar M Herdan, Ayman M Mahran
Transforming growth factor β1 (TGF-β1) has a large role in the control of autoimmunity. Single nucleotide polymorphisms (SNP) in the promoter of TGF-β1 cytokine gene are known to alter the production of this important cytokine. Decreased levels of TGF-β1 may contribute to systemic lupus erythematosus (SLE) susceptibility, activity and organ damage. Lupus nephritis (LN) occurs in more than one-third of patients with SLE. In this study we measured serum levels of TGF-β1 and assessed TGF-β1 single nucloetide polymorphism (SNP) at codon 10 (T869C) in Egyptian SLE population in order to verify whether there is a relationship between this polymorphism, serum level of TGF-β1, SLE susceptibility, clinical manifestations and lupus nephritis...
2014: Egyptian Journal of Immunology
Lien Van Eyck, Lien De Somer, Diana Pombal, Simon Bornschein, Glynis Frans, Stéphanie Humblet-Baron, Leen Moens, Francis de Zegher, Xavier Bossuyt, Carine Wouters, Adrian Liston
OBJECTIVE: To identify the underlying genetic defect in a 16-year-old girl with severe early-onset and refractory systemic lupus erythematosus (SLE), IgA deficiency, and mild lower limb spasticity without neuroradiologic manifestations. METHODS: Whole-exome sequencing and extensive immunologic analysis were performed on samples from the index patient. RESULTS: We identified a de novo p.R779H IFIH1 gain-of-function mutation in a patient with severe early-onset SLE, selective IgA deficiency, and mild lower limb spasticity...
June 2015: Arthritis & Rheumatology
Hildson Dornelas Angelo da Silva, Alex Paulino da Silva, Helker Albuquerque da Silva, Nadja Maria Jorge Asano, Maria de Mascena Diniz Maia, Paulo Roberto Eleutério de Souza
The pathogenesis of systemic lupus erythematosus (SLE) is complex, with several susceptibility genes and environmental factors involved in its development and clinical manifestation. Currently, there is a great amount of interest in the identification of biomarkers, as cytokines, that can quantify the susceptibility of SLE, the risk of future organ involvement, and association of their changes with disease activity. To investigate the associations between polymorphisms in the gene of Interferon gamma (IFN-γ) and in the promoter of the Interleukin-10 (IL-10) gene and SLE...
2014: Molecular Biology Reports
Emily D Privette, Victoria P Werth
PURPOSE OF REVIEW: Cutaneous Lupus Erythematous (CLE) is an autoimmune disease in which patients may present with isolated skin findings or have CLE associated with underlying systemic disease. The most significant recent studies on its pathogenesis and therapeutic management are reviewed here. RECENT FINDINGS: Patients with subacute and Discoid Lupus Erythematous had elevated Interferon score, about a third of all cases of SCLE could be attributed to previous drug exposure, and smoking may be more closely associated with CLE than Systemic Lupus Erythematous (SLE)...
September 2013: Current Opinion in Rheumatology
Antonis Fanouriakis, Dimitrios T Boumpas, George K Bertsias
PURPOSE OF REVIEW: Neuropsychiatric manifestations pose diagnostic and therapeutic challenges in systemic lupus erythematosus (SLE). We review recently published studies on the epidemiology, pathogenesis, neuroimaging, and treatment of NPSLE. RECENT FINDINGS: Generalized SLE activity or damage and antiphospholipid antibodies are identified as major risk factors for neuropsychiatric involvement. NPSLE patients have increased genetic burden and novel genomic approaches are expected to elucidate its pathogenesis...
September 2013: Current Opinion in Rheumatology
S V Moiseev, P I Novikov, E N Semenkova, L A Strizhakov, S V Gulyaev, T N Yanushkevich, N V Nikiforova, A D Meshkov, V V Panasyuk, Yu D Sokorin, M V Taranova, S A Parfenova, L V Dubrovskaya, E S Zhabina, E I Kuznetsova, I A Lopatina, N M Bulanov, N A Mukhin
AIM: To assess the risk of severe adverse events (AEs) within 6 months after treatment with biological agents in patients with rheumatic diseases (RD). SUBJECTS AND METHODS: The 6-month open-label trial included 107 patients with rheumatoid arthritis, antineutrophil cytoplasmic antibody-associated vasculitides, systemic lupus erythematosus, and other RDs who received genetically engineered biological agents (GEBAs), primarily rituximab (n = 66) and infliximab (n = 31)...
2013: Terapevticheskiĭ Arkhiv
Carlo Selmi
The mechanisms leading to the onset and perpetuation of systemic and tissue-specific autoimmune diseases are complex, and numerous hypotheses have been proposed or confirmed over the past 12 months. It is particularly of note that the number of articles published during 2011 in the major immunology and autoimmunity journals increased by 3 % compared to the previous year. The present article is dedicated to a brief review of the reported data and, albeit not comprehensive of all articles, is aimed at identifying common and future themes...
August 2012: Clinical Reviews in Allergy & Immunology
S E Sweeney
The expression and activation of regulatory factors (IRF) and rinterferon (IFN) response genes were evaluated in a patient treated with autologous hematopoietic stem cell transplant (HSCT) for refractory systemic lupus erythematosus (SLE). In SLE patients, genetic variants of IRF5 and IRF7 have been associated with increased serum IFNα levels, suggesting a pathogenic role in the type I IFN response. Clinical and molecular analyses of an SLE patient treated with high-dose immunosuppressive therapy and autologous stem cell transplant was performed...
August 2011: Lupus
Jason J Emer, Wolinsky Claire
The treatment of many dermatological disorders, such as autoimmune and immune-mediated diseases, consists of the use of systemic corticosteroids alone or in combination with other steroid-sparing immunosuppressants. Often, these treatment regimens are sufficient to control disease activity with relatively few side effects if monitored by a diligent physician. Some patients, however, may be refractory to treatment or develop intolerable side effects from therapy. For these patients, alternative treatment modalities with less toxicity and greater efficacy are required...
May 2009: Journal of Clinical and Aesthetic Dermatology
Klaus Sellheyer, Dieter Krahl
Stem cell-based therapies are expected to have a great impact on the medicine of the 21st century. The focus of dermatologic stem cell research is on the epidermis and the hair follicle. In contrast, the characterization of stem cells in the mesenchymal compartments of the skin has largely escaped the attention of the dermatologic community. This is surprising because the dermis may represent a larger reservoir for adult stem cells than the epidermis and the hair follicle together. In 2001, mesenchymal stem cells residing within the dermis were first isolated...
November 2010: Journal of the American Academy of Dermatology
Anupama Ahuja, Jonathan Shupe, Robert Dunn, Michael Kashgarian, Marilyn R Kehry, Mark J Shlomchik
In mice, genetic deletion of B cells strongly suppresses systemic autoimmunity, providing a rationale for depleting B cells to treat autoimmunity. In fact, B cell depletion with rituximab is approved for rheumatoid arthritis patients, and clinical trials are underway for systemic lupus erythematosus. Yet, basic questions concerning mechanism, pathologic effect, and extent of B cell depletion cannot be easily studied in humans. To better understand how B cell depletion affects autoimmunity, we have generated a transgenic mouse expressing human CD20 on B cells in an autoimmune-prone MRL/MpJ-Fas(lpr) (MRL/lpr) background...
September 1, 2007: Journal of Immunology: Official Journal of the American Association of Immunologists
Noah Scheinfeld
The rituximab antibody is a genetically engineered chimeric murine/human monoclonal antibody directed against the CD20 antigen found on the surface of normal and malignant B lymphocytes. Rituximab is indicated for the treatment of patients with relapsed or refractory, low-grade or follicular, CD20-positive, B-cell non-Hodgkin lymphoma. Rituximab is also commonly used to treat chronic lymphocytic leukemia, Waldenstrom's macroglobulinemia, and immune or idiopathic thrombocytopenic purpura (ITP). Rituximab is an effective treatment for primary cutaneous B-cell lymphoma and other cutaneous lymphomas...
2006: Dermatology Online Journal
Carmen Alaez, Mariana Loyola, Andrea Murguía, Hilario Flores, Araceli Rodríguez, Roberto Ovilla, Gregorio Ignacio, Raquel Amador, Victor Salinas, Fernanda Perez, Danaee Rodríguez, Zoila Morales, Gonzalo Llinguin, Alejandra Vazquez, Analia Altamirano, Clara Gorodezky
HSCT provides the opportunity to replace a damaged tissue. It is the most important treatment for high risk hematologic malignant and non malignant disorders. An important challenge in the identification of matched donors/patients is the HLA diversity. The Mexican Bone Marrow Registry (DONORMO) has nowadays > 5000 donors. The prevalent alleles are Amerindian, Mediterranean (Semitic and Spanish genes) and African. In theory, it is possible to find 11% of 6/6 A-B-DR low resolution matches for 70% of patients with Mexican ancestry...
March 2006: Autoimmunity Reviews
R Omdal, K Wildhagen, T Hansen, R Gunnarsson, G Kristoffersen
Rituximab is a genetically engineered chimeric monoclonal immunoglobulin (Ig)G1 antibody. It binds the CD20 trans-membrane surface antigen expressed by mature B cells but not by antibody secreting plasma cells, and removes the cells by activating complement, inducing cell-mediated lysis, and by apoptosis. Mainly used for the treatment of non-Hodgkin's lymphomas, rituximab has recently been tried with favourable responses in rheumatoid arthritis, systemic lupus erythematosus, and other chronic immunological diseases...
May 2005: Scandinavian Journal of Rheumatology
Shiori Kondo, Tomoyuki Akashi, Hitoshi Katsuta, Ryuichi Iwakiri, Keizo Anzai, Seiho Nagafuchi, Yoshiyuki Niho, Mine Harada
The levels and types of immune responses are determined dependent on the extent of pathogen invasion, reactions to antigens mediated by macrophage-dendritic cells, T cells and antibodies. Recently, accumulating evidence suggests that B cells also play an important role in the regulation of immune responses. Here we have made a review to present a role of B cells in determining the level of immune responses and discussed about the clinical significance of B cell-targeted therapy in patients with autoimmune diseases...
April 2005: Fukuoka Igaku Zasshi, Hukuoka Acta Medica
Dong Qing Ye, Yi Song Hu, Xiang Pei Li, Shi Gui Yang, Jia Hu Hao, Fen Huang, Xue Jun Zhang
Monocyte chemoattractant protein-1 (MCP1) polymorphism has been reported to be associated with systemic lupus erythematosus (SLE). However, the correlation between the polymorphism and SLE is poorly understood. In this study we investigated the role of this polymorphism together with that of chemokine SDF1-3'A and chemokine receptor CCR2-V64I. The association between gene polymorphism and SLE was explored by way of a case-control study. In 143 patients with SLE and 157 healthy controls, the polymorphisms of SDF1-3'A, -2518MCP-1 and CCR2-V64I were determined using PCR-RFLP and an amplification-refractory mutation system, respectively...
February 2005: Archives of Dermatological Research
María Francisca González-Escribano, Francisco Aguilar, Belén Torres, Julio Sánchez-Román, Antonio Núñez-Roldán
The ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase (CD38) gene is a positional and functional candidate gene for the susceptibility to systemic lupus erythematosus (SLE) because CD38 gene maps in the described SLE risk region 4p15 and CD38 molecule is a leukocyte activation antigen and ectoenzyme involved in numerous immune functions. The aim of this study was to investigate the possible association of the polymorphisms located at positions 182 of intron 1 (C/G) and 418 (C/T, located in exon 3) of the CD38 gene with the susceptibility and clinical features of SLE...
June 2004: Human Immunology
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