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Autoimmune disorders

Reza Yazdani, Gholamreza Azizi, Hassan Abolhassani, Asghar Aghamohammadi
Selective immunoglobulin A deficiency (SIgAD) is the most common primary antibody deficiency. Although more patients with SIgAD are asymptomatic, selected patients suffer from different clinical complications such as pulmonary infections, allergies, autoimmune diseases, gastrointestinal disorders and malignancy. Pathogenesis of SIgAD is still unknown, however, a defective terminal differentiation of B-cells and defect in switching to IgA-producing plasma cells are presumed to be responsible. Furthermore, some cytogenic defects and monogenic mutations are associated with SIgAD...
October 20, 2016: Scandinavian Journal of Immunology
Anastasia V Balakireva, Andrey A Zamyatnin
Theterm gluten intolerance may refer to three types of human disorders: autoimmune celiac disease (CD), allergy to wheat and non-celiac gluten sensitivity (NCGS). Gluten is a mixture of prolamin proteins present mostly in wheat, but also in barley, rye and oat. Gluten can be subdivided into three major groups: S-rich, S-poor and high molecular weight proteins. Prolamins within the groups possess similar structures and properties. All gluten proteins are evolutionarily connected and share the same ancestral origin...
October 18, 2016: Nutrients
Katherine McIvor, Perry Moore
OBJECTIVE: Anti N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis is an autoimmune disorder that was only fully discovered recently and neuropsychological outcome data remains sparse. We present the case of BA, a 19-year-old male, which illustrates the cognitive outcome in an untreated case over a time period of over 2½ years. METHOD: We conducted three cognitive assessments, including tests of memory and executive functioning, over this time period and considered the evidence for reliable change in memory function using the Wechsler Advanced Clinical Solutions (ACS) serial assessment package...
October 20, 2016: Clinical Neuropsychologist
I Mancini, I Ricaño-Ponce, E Pappalardo, A Cairo, M M Gorski, G Casoli, B Ferrari, M Alberti, D Mikovic, M Noris, C Wijmenga, F Peyvandi
BACKGROUND: Acquired thrombotic thrombocytopenic purpura (TTP) is a rare, life-threatening thrombotic microangiopathy associated with the development of autoantibodies against the von Willebrand factor cleaving protease, ADAMTS13. Similarly to other autoimmune disorders, evidences of a genetic contribution have been reported, including the association of the human leukocyte antigen (HLA) class II complex with disease risk OBJECTIVE: To identify novel genetic risk factors in acquired TTP...
October 20, 2016: Journal of Thrombosis and Haemostasis: JTH
Geraint P Williams, Peter Nightingale, Sue Southworth, Alastair K O Denniston, Paul J Tomlins, Stephen Turner, John Hamburger, Simon J Bowman, S John Curnow, Saaeha Rauz
Purpose: Ocular mucous membrane pemphigoid (OcMMP) is a rare autoimmune disorder resulting in progressive conjunctival fibrosis and ocular surface failure leading to sight loss in up to 50%. This study was designed to optimize an ocular surface sampling technique for identification of novel biomarkers associated with disease activity and/or progressive fibrosis. Methods: Fifty-seven patients with OcMMP underwent detailed examination of conjunctival inflammation and fibrosis using fornix depth measurement...
October 1, 2016: Investigative Ophthalmology & Visual Science
Stuart G Tangye
Some autoimmune disorders are monogenetic diseases; however, clinical manifestations among individuals vary, despite the presence of identical mutations in the disease-causing gene. In this issue of the JCI, Massaad and colleagues characterized a seemingly monogenic autoimmune disorder in a family that was linked to homozygous loss-of-function mutations in the gene encoding the endonuclease Nei endonuclease VIII-like 3 (NEIL3), which has not been previously associated with autoimmunity. The identification of an unrelated healthy individual with the same homozygous mutation spurred more in-depth analysis of the data and revealed the presence of a second mutation in a known autoimmune-associated gene...
October 17, 2016: Journal of Clinical Investigation
Ivanka S Nenova, Mariana Y Valcheva, Elina A Beleva, Dora Y Tumbeva, Marianna P Yaneva, Emilia L Rancheva, Zhanet G Grudeva-Popova
INTRODUCTION: Autoimmune disorders have been documented in solid tumors and malignant hematological disorders. They are very common and well studied in lymphomas which are associated with immune imbalance. They are less common in solid tumors and are categorized as paraneoplastic syndromes with unclear pathogenesis. AIM: The aim of the present study was to find the frequency of autoimmune phenomena in solid tumors of various origin, location and status of the tumor...
September 1, 2016: Folia Medica
Xiaojing Wang, Fan Ping, Cuijuan Qi, Xinhua Xiao
BACKGROUND: Autoimmune polyglandular syndrome type 2 (APS-2), also known as Schmidt's syndrome, is an uncommon disorder characterized by the coexistence of Addison's disease with thyroid autoimmune disease and/or type 1 diabetes mellitus. Addison's disease as the obligatory component is potentially life-threatening. Unfortunately, the delayed diagnosis of Addison's disease is common owing to its rarity and the nonspecific clinical manifestation. METHODS: Here we reported a case of 38-year-old female patient who presented with 2 years' history of Hashimoto's thyroiditis and received levothyroxine replacement...
October 2016: Medicine (Baltimore)
Justin C Chia, P Régine Mydlarski
PURPOSE: Omalizumab is a recombinant humanized monoclonal antibody that inhibits the binding of IgE to the high-affinity IgE receptor (FceRI) on the surface of mast cells and basophils. Omalizumab has been approved for use in asthma, and new reports show promise in a variety of dermatologic diseases. Herein, we review the literature on omalizumab in dermatology and discuss the safety, efficacy and mechanisms of action for this emerging therapy. MATERIALS AND METHODS: PubMED, MEDLINE, and Embase databases were searched for the period January 1, 1990, to September 1, 2016...
October 19, 2016: Journal of Dermatological Treatment
Nadja Borisow, Ingo Kleiter, Anna Gahlen, Katrin Fischer, Klaus-Dieter Wernecke, Florence Pache, Klemens Ruprecht, Joachim Havla, Markus Krumbholz, Tania Kümpfel, Orhan Aktas, Marius Ringelstein, Christian Geis, Christoph Kleinschnitz, Achim Berthele, Bernhard Hemmer, Klemens Angstwurm, Robert Weissert, Jan-Patrick Stellmann, Simon Schuster, Martin Stangel, Florian Lauda, Hayrettin Tumani, Christoph Mayer, Lena Zeltner, Ulf Ziemann, Ralf A Linker, Matthias Schwab, Martin Marziniak, Florian Then Bergh, Ulrich Hofstadt-van Oy, Oliver Neuhaus, Alexander Winkelmann, Wael Marouf, Lioba Rückriem, Jürgen Faiss, Brigitte Wildemann, Friedemann Paul, Sven Jarius, Corinna Trebst, Kerstin Hellwig
BACKGROUND: Gender and age at onset are important epidemiological factors influencing prevalence, clinical presentation, and treatment response in autoimmune diseases. OBJECTIVE: To evaluate the impact of female sex and fertile age on aquaporin-4-antibody (AQP4-ab) status, attack localization, and response to attack treatment in patients with neuromyelitis optica (NMO) and its spectrum disorders (neuromyelitis optica spectrum disorder (NMOSD)). METHODS: Female-to-male ratios, diagnosis at last visit (NMO vs NMOSD), attack localization, attack treatment, and outcome were compared according to sex and age at disease or attack onset...
October 6, 2016: Multiple Sclerosis: Clinical and Laboratory Research
Ke-Wei Tian, Fan Zhang, Hong Jiang, Beibei Wang, Shu Han
Multiple sclerosis (MS) is a chronic neurological disorder that affects the central nervous system (CNS), and results in CNS inflammation and damage to myelin. In this study, we examined the possible synergistic effects of C16, angiopoietin-1 (Ang-1) and regeneration gene protein 2 (Reg-2) in alleviating inflammation in an acute experimental autoimmune encephalomyelitis (EAE) model. We employed multiple histological, morphological and iconographic assays to examine the effect of those drugs on disease onset, clinical scores and behavioral deficits...
October 19, 2016: Journal of Anatomy
Tao Gu, Neel Shah, Gaurav Deshpande, Derek H Tang, Debra F Eisenberg
BACKGROUND: The relative cost of biologics in the treatment of autoimmune disorders, including rheumatoid arthritis, psoriatic arthritis, psoriasis, and ankylosing spondylitis, is a key consideration for managed care payers. OBJECTIVES: Our objective was to estimate biologic costs and treatment patterns in US managed care patients with rheumatoid arthritis, psoriatic arthritis, psoriasis, and/or ankylosing spondylitis. METHODS: This retrospective study used administrative claims data from the HealthCore Integrated Research Database (HIRD(SM)) for adults with rheumatoid arthritis, psoriatic arthritis, psoriasis, and/or ankylosing spondylitis who received abatacept, adalimumab, certolizumab, etanercept, golimumab, infliximab, rituximab, tocilizumab, or ustekinumab between 1 July 2009 and 31 January 2013...
October 18, 2016: Drugs—Real World Outcomes
Nabil K El Ayoubi, Samia J Khoury
Multiple sclerosis (MS) is an autoimmune demyelinating disorder of the central nervous system. Only a few biomarkers are available in MS clinical practice, such as cerebrospinal fluid oligoclonal bands and immunoglobulin index, serum anti-aquaporin 4 antibodies, and serum anti-John Cunningham virus antibodies. Thus, there is a significant unmet need for biomarkers to assess prognosis, response to therapy, or potential treatment complications. Here we describe emerging biomarkers that are in development, focusing on those from peripheral blood...
October 18, 2016: Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics
Yusuke Endo, Koutaro Yokote, Toshinori Nakayama
Chronic inflammation associated with obesity plays a major role in the development of metabolic diseases, cancer, and autoimmune diseases. Among Th subsets, Th17 cells are involved in the pathogenesis of autoimmune disorders such as psoriasis, rheumatoid arthritis, inflammatory bowel disease, steroid-resistant asthma, and multiple sclerosis. Accumulating data suggest that reciprocal interactions between the metabolic systems and immune system play pivotal roles in the pathogenesis of obesity-associated diseases...
October 18, 2016: Cellular and Molecular Life Sciences: CMLS
Anahita Alizadeh, Omid Mehrpour, Karim Nikkhah, Golnaz Bayat, Mahsa Espandani, Alireza Golzari, Lida Jarahi, Mohsen Foroughipour
INTRODUCTION: Multiple Sclerosis (MS) is defined as one of the inflammatory autoimmune disorders and is common. Its exact etiology is unclear. There are some evidences on the role of environmental factors in susceptible genetics. The aim of this study is to evaluate the possible role of Selenium, Zinc, Copper, Lead and Magnesium metals in Multiple Sclerosis patients. METHODS: In the present analytical cross-sectional study, 56 individuals including 26 patients and 30 healthy controls were enrolled in the evaluation...
August 2016: Electronic Physician
Elaine Cristina Lima Dos Santos, Amanda Chaves Pinto, Evandro Mendes Klumb, Jacyara Maria Brito Macedo
OBJECTIVE: To investigate potential associations of four substitutions in NAT2 gene and of acetylator phenotype of NAT2 with systemic lupus erythematosus (SLE) and clinical phenotypes. METHODS: Molecular analysis of 481C>T, 590G>A, 857G>A, and 191G>A substitutions in the NAT2 gene was performed by PCR-RFLP technique, using DNA extracted from peripheral blood samples obtained from patients with SLE (n=91) and controls (n=97). RESULTS AND CONCLUSIONS: The 857GA genotype was more prevalent among nonwhite SLE patients (OR=4...
September 28, 2016: Revista Brasileira de Reumatologia
Pedro Pallangyo, Isaac Mawenya, Paulina Nicholaus, Henry Mayala, Amida Kalombola, Godwin Sharau, Naiz Majani, Mohamed Janabi
BACKGROUND: Congenital complete heart block is a life-threatening condition which is highly associated with autoimmune and connective tissue disorders. Presence of maternal autoantibodies for associated conditions increases the risk of delivering a child with congenital complete heart block, however, less than a half of all women with such antibodies are symptomatic even after delivery. Mortality rate is highest during the neonatal period (45 %) and about two-thirds of all cases will require permanent pacing at some point in their lives...
October 19, 2016: Journal of Medical Case Reports
Thashi Chang, Bethan Lang, Angela Vincent
BACKGROUND: Stiff person syndrome is a highly disabling, progressive autoimmune disorder of the central nervous system characterized by muscle rigidity and spasms. Stiff person syndrome is rare, but is believed to be under diagnosed with only 14 cases been reported among a 1.7 billion population in South Asia. We report the first authenticated case from Sri Lanka. CASE PRESENTATION: A 55-year-old Sri Lankan female presented with difficulty in walking and recurrent falls due to progressive muscular rigidity in her lower limbs and trunk with superimposed muscle spasms that occurred in response to unexpected noise, startle or emotional upset...
October 18, 2016: BMC Research Notes
Arsenio Spinillo, Fausta Beneventi, Elena Locatelli, Vèronique Ramoni, Roberto Caporali, Claudia Alpini, Giulia Albonico, Chiara Cavagnoli, Carlomaurizio Montecucco
BACKGROUND: The burden of pregnancy complications associated with well defined, already established systemic rheumatic diseases preexisting pregnancy such as rheumatoid arthritis, systemic lupus erythematosus or scleroderma is well known. Systemic rheumatic diseases are characterized by a long natural history with few symptoms, an undifferentiated picture or a remitting course making difficult a timely diagnosis. It has been suggested that screening measures for these diseases could be useful but the impact of unrecognized systemic rheumatic disorders on pregnancy outcome is unknown...
October 18, 2016: BMC Pregnancy and Childbirth
Venetia Bigley, Dawn Barge, Matthew Collin
PURPOSE OF REVIEW: Dendritic cells are specialized antigen-presenting cells which link innate and adaptive immunity, through recognition and presentation of antigen to T cells. Although the importance of dendritic cells has been demonstrated in many animal models, their contribution to human immunity remains relatively unexplored in vivo.Given their central role in infection, autoimmunity, and malignancy, dendritic cell deficiency or dysfunction would be expected to have clinical consequences...
October 17, 2016: Current Opinion in Allergy and Clinical Immunology
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