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Autoimmune syndrome

Giuliana Giardino, Vera Gallo, Rosaria Prencipe, Giovanni Gaudino, Roberta Romano, Marco De Cataldis, Paola Lorello, Loredana Palamaro, Chiara Di Giacomo, Donatella Capalbo, Emilia Cirillo, Roberta D'Assante, Claudio Pignata
Increased risk of developing autoimmune manifestations has been identified in different primary immunodeficiencies (PIDs). In such conditions, autoimmunity and immune deficiency represent intertwined phenomena that reflect inadequate immune function. Autoimmunity in PIDs may be caused by different mechanisms, including defects of tolerance to self-antigens and persistent stimulation as a result of the inability to eradicate antigens. This general immune dysregulation leads to compensatory and exaggerated chronic inflammatory responses that lead to tissue damage and autoimmunity...
2016: Frontiers in Pediatrics
Fatima El-Assaad, Steven A Krilis, Bill Giannakopoulos
The antiphospholipid syndrome (APS) is an autoimmune disease characterised by a procoagulant state that predisposes to recurrent thrombosis and miscarriages. Two major discoveries have advanced our understanding of the underlying complex pathogenesis of the APS. The first was the discovery that beta-2 glycoprotein-1 (β2GPI) is the major auto antigen in APS. The second was the discovery in more recent years that β2GPI contains allosteric disulphide bonds susceptible to posttranslational modification that may be involved in the development of autoantibodies in APS...
2016: Thrombosis Journal
Karan Seegobin, Kamille Abdool, Kanterpersad Ramcharan, Haramnauth Dyaanand, Fidel Rampersad
We describe a case of Parry Romberg syndrome/en coupe de sabre in a woman whose disease started as seizures at age 8 but was diagnosed at the age 39. During these 31 years she got married, completed a first degree at university, had two successful pregnancies and has been gainfully employed. The features of generalized tonic-clonic seizures, autoimmune abnormalities, ocular abnormalities, morphea en coup de sabre and brain imaging abnormalities were present. Areas of parietal lobe cerebral calcification were encountered on the computed tomographic scan and bilateral periventricular white matter changes on the magnetic resonance imaging with frontal, temporal and parietal lobe brain atrophy ipsilateral to the facial hemiatrophy...
September 30, 2016: Neurology International
Laura Acquasaliente, Daniele Peterle, Simone Tescari, Nicola Pozzi, Vittorio Pengo, Vincenzo De Filippis
: β2-Glycoprotein I (β2GpI) is the major autoantigen in the antiphospholipid syndrome, a thrombotic autoimmune disease. Nonetheless, the physiological role of β2GpI is still unclear. In a recent work, we have shown that β2GpI selectively inhibits the procoagulant functions of human a-thrombin (αT) (i.e. prolongs fibrin clotting time, tc, and inhibits αT-induced platelets aggregation) without affecting the unique anticoagulant activity of the protease, i.e. the proteolytic generation of the anticoagulant protein C (PC) from the PC zymogen, which interacts with αT exclusively at the protease catalytic site...
October 19, 2016: Biochemical Journal
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
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
E Ylinen, L Salmela, J Peräsaari, T Jaatinen, A Tenca, O Vapalahti, M Färkkilä, H Jalanko, K-L Kolho
AIM: The human leukocyte antigen (HLA) allele and haplotype frequencies of the Finnish population are unique because of the restricted and homogenous gene population. There are no published data on HLA genotype associations in paediatric autoimmune liver diseases in Scandinavia. This study characterised the HLA genotypes of children with autoimmune liver or biliary disease in Finland. METHODS: The study cohort comprised 19 paediatric patients (13 female) aged 3-15 years treated for autoimmune liver or biliary disease at the Children's Hospital, Helsinki University Hospital, between 2000 and 2011 and followed up for 4...
October 19, 2016: Acta Paediatrica
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
A A H Bressers, N A Goto, S Piepers, J C Regelink
BACKGROUND: Autoimmune encephalitis is a rare condition characterized by subacute development of cognitive and psychiatric symptoms. A paraneoplastic syndrome involves autoimmune encephalitis caused by classic antibodies. Although this condition is often associated with cancer, no malignancy has yet been found in 70-90% of patients at the time of diagnosis. CASE DESCRIPTION: We saw a 58-year-old male patient with fatigue, diarrhoea and weight loss. He was also experiencing hyperekplexia, personality changes and an instable gait...
2016: Nederlands Tijdschrift Voor Geneeskunde
Mohammad Reza Hatef-Fard, Mina Khodabandeh, Maryam Sahebari, Majid Ghayour-Mobarhan, Zahra Rezaieyazdi
BACKGROUND: Systemic lupus erythematous is an autoimmune disease associated with atherosclerotic manifestations or metabolic disturbance due to inflammation. The aim of this study was to determine frequency of metabolic syndrome (MetS) in SLE compared to healthy controls. METHODS: In this cross-sectional study, 150 SLE patients and 220 healthy volunteers were enrolled. MetS was diagnosed according to ATPIII criteria. Patients and controls were compared according to prevalence of MetS...
2016: Caspian Journal of Internal Medicine
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
Gabriela Barcenas-Morales, Peter Jandus, Rainer Döffinger
PURPOSE OF REVIEW: Concise overview of the field of anticytokine autoantibodies with a focus on recent developments. RECENT FINDINGS: Advances in particular in the analysis of autoantibodies to IFNγ, granulocyte-macrophage colony-stimulating factor (GM-CSF) and IFN-1 are presented. The target epitope for anti-IFNγ autoantibodies has been found to have high homology to a protein from Aspergillus suggesting molecular mimicry as a mechanism of breaking self-tolerance...
October 13, 2016: Current Opinion in Allergy and Clinical Immunology
Hagit Peleg, Eldad Ben-Chetrit
PURPOSE OF REVIEW: This article addresses the prevalence and relationship between autoinflammatory diseases and vasculitis. RECENT FINDINGS: Autoimmune diseases (AIDs) are a group of syndromes characterized by episodes of unprovoked inflammation due to dysregulation of the innate immune system. Despite the common occurrence of rashes and other skin lesions in these diseases, vasculitis is reported in only a few. On the other hand, neutrophilic dermatoses are more prevalent...
October 13, 2016: Current Opinion in Rheumatology
Marcella Nebbioso, Valeria Fameli, Magda Gharbiya, Marta Sacchetti, Anna Maria Zicari, Alessandro Lambiase
The dry eye disease (DED) is a chronic multifactorial disorder of the tears that also involves the ocular surface, the lacrimal glands, and meibomian dysfunction. Furthermore, DED is often associated with Sjögren's syndrome (SS) and other autoimmune disorders. Sometimes, this chronic or subclinical condition is difficult to diagnose and treat, due to its heterogeneity. Areas covered: A literature search of relevant publications about treatment of DED was performed. All relevant articles published between 2011 and 2016 were identified through a computerized search for review and clinical trials using Pub Med database...
October 18, 2016: Expert Opinion on Investigational Drugs
Y Zuo, R Willis, E Papalardo, M Petri, E N Harris, A Schleh, K DeCeulaer, M Smikle, L M Vilá, J D Reveille, G S Alarcón, E B Gonzalez
BACKGROUND: While essential for the classification of antiphospholipid syndrome (APS), anticardiolipin (aCL) assays lack specificity and anti-β2glycoproteinI (anti-β2GPI) assays lack sensitivity in this regard. Our aim was to perform a comparative analysis of the APhL ELISA assay (IgG/IgM) and criteria antiphospholipid (aPL) immunoassays in identifying APS-related clinical manifestations in a large group of patients with systemic lupus erythematosus (SLE). METHODS: Serum samples from 1178 patients from the Hopkins (n = 543), LUMINA (n = 588) and Jamaican SLE cohorts (n = 47) were examined for IgG/IgM positivity in aCL (in-house), anti-β2GPI (two commercial kits) and APhL (Louisville APL) ELISA assays...
October 16, 2016: Lupus
Nicole C Droz, Stephanie D Mathew
After presenting with nonspecific symptoms, a 52-year-old female was found to have a 3.4 × 2.6 cm retroperitoneal mass resulting in hydronephrosis on abdominal computed tomography scan. After extensive workup including surgical debulking, excisional biopsy, and autoimmune panel, she was found to have idiopathic retroperitoneal fibrosis (IRF) with negative staining for immunoglogulin G4 (IgG4). Two years after presentation, the patient developed dyspnea, cough, and xerostomia. Repeat anti-Sjögren Syndrome A and anti-Sjögren Syndrome B titers and labial gland biopsy confirmed the diagnosis of concomitant Sjögren's syndrome (SS)...
October 2016: Military Medicine
Brian H Cohen, Michael P Gaspar, Alan H Daniels, Edward Akelman, Patrick M Kane
Double crush syndrome (DCS), as it is classically defined, is a clinical condition composed of neurological dysfunction due to compressive pathology at multiple sites along a single peripheral nerve. The traditional definition of DCS is narrow in scope because many systemic pathologic processes, such as diabetes mellitus, drug-induced neuropathy, vascular disease and autoimmune neuronal damage, can have deleterious effects on nerve function. Multifocal neuropathy is a more appropriate term describing the multiple etiologies (including compressive lesions) that may synergistically contribute to nerve dysfunction and clinical symptoms...
October 14, 2016: Journal of Hand Surgery
Filiz Kizilirmak, Gultekin Gunhan Demir, Beytullah Cakal, Hüseyin Saffet Bekoz, Fatih Erkam Olgun
Evans syndrome (ES) is a rare hematological disease characterized by autoimmune hemolytic anemia, immune thrombocytopenia, and/or neutropenia, all of which may be seen simultaneously or subsequently. Thrombotic events in ES are uncommon. Furthermore, non-ST segment-elevation myocardial infarction (NSTEMI) during ES is a very rare condition. Here, we describe a case of a 69-year-old female patient presenting with NSTEMI and ES. Revascularization via percutaneous coronary intervention (PCI) was scheduled and performed...
September 2016: Indian Heart Journal
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