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Autoimmune thyroiditis is an organ-specific autoimmune disease caused by the activation of self-reactive CD4+ T cells. Regulatory T (Treg) cells are a population of T cells that play a central role in immunological tolerance by suppressing selfreactive cells. CD4+ Tregs are divided into thymic (tTreg) and peripheral (pTreg). tTregs perform their functions through cytokine-independent mechanisms, pTregs – through IL-10, TGF-β and IL-35. Tregs perform a protective function against AIT. Studies of Treg level in AIT show different results, in most cases Treg level is increased, and their function is impaired. Treg function in AIT is affected by many factors, such as the level of thyroglobulin, vitamin D etc. Apart from the Treg level itself, the Th17/Treg ratio is also crucial in AIT. Activation of Tregs and modification of the Th17/Treg ratio can be used in AIT treatment.

Vitiligo is a common polygenic autoimmune disease in which the foci of depigmentation are formed on the skin and/or mucous membranes as a result of the death of melanocytes. There are several hypotheses for the pathogenesis of the disease, the leading role among them is played the autoimmune hypothesis. This review summarizes the available literature data on the prevalence and structure of comorbid endocrine autoimmune pathology in vitiligo patients. In most studies conducted in Europe, America and Asia the prevalence of autoimmune thyroid diseases (including autoimmune thyroiditis and Graves disease), diabetes mellitus and autoimmune adrenal insufficiency was higher in vitiligo patients than in the general population. The results of some studies indicate a frequent association of vitiligo with autoimmune polyglandular syndromes. In the structure of comorbid pathology the highest prevalence was in autoimmune thyroid diseases. A number of studies have established a higher prevalence of autoimmune endocrine diseases in women, as well as in nonsegmental vitiligo patients and in cases of family history of vitiligo and/or other autoimmune diseases. In addition, it was shown that the prevalence of endocrine diseases increases with increasing area of depigmentation. The data obtained justify the advisability of conducting a timely examination of vitiligo patients with the aim of early detection of comorbid diseases and the appointment of appropriate treatment. Further studies are needed to investigate the effect of the identified associations on the course of vitiligo and comorbid endocrinopathies, as well as the effectiveness of therapy and the quality of life of patients.Витилиго является распространенным полигенным аутоиммунным заболеванием, при котором в результате гибели меланоцитов образуются очаги депигментации на коже и/или слизистых оболочках. Существует несколько гипотез патогенеза заболевания, среди которых ведущая роль отводится аутоиммунной. В настоящем обзоре обобщены имеющиеся литературные данные, посвященные изучению распространенности и структуры коморбидной эндокринной аутоиммунной патологии у больных витилиго. В большинстве исследований, проведенных в странах Европы, Америки и Азии, у больных витилиго установлена более высокая, по сравнению с общей популяцией, распространенность аутоиммунных заболеваний щитовидной железы (в том числе аутоиммунного тиреоидита и болезни Грейвса), сахарного диабета и аутоиммунной надпочечниковой недостаточности. Результаты отдельных исследований свидетельствуют о частой ассоциации витилиго с аутоиммунными полигландулярными синдромами. В структуре коморбидной патологии наиболее часто встречается ассоциация витилиго с аутоиммунными заболеваниями щитовидной железы. В ряде работ установлена более высокая распространенность аутоиммунных эндокринных заболеваний у женщин, а также у больных несегментарным типом витилиго и в случаях наличия отягощенного семейного анамнеза. Кроме того, показано, что частота развития эндокринных заболеваний возрастает по мере увеличения площади депигментации. Полученные данные обосновывают целесообразность проведения своевременного обследования больных витилиго с целью раннего выявления коморбидных эндокринных заболеваний и назначения соответствующего лечения. Необходимо проведение дальнейших исследований по изучению влияния выявленных ассоциаций на течение витилиго и сопутствующих эндокринопатий, а также эффективность терапии и качество жизни пациентов.

Multiple sclerosis (MS) is a chronic autoimmune disease, in the pathogenesis of which the concurrence of demyelination of central nervous system (CNS) axons and neurodegeneration plays a role and which is accompanied by progressive neurological dysfunction. Long-term monitoring of patients with MS is needed to rate its severity according to existing scales; it is therefore very relevant to search for genomic markers that can predict the rate of disease progression at early stages. The impact of polymorphic variants in the PVT1 locus on MS severity has not been previously studied.Objective: to analyze the association of the polymorphic variants rs4645948 in the MYC gene and rs2114358 and rs4410871) in the PVT1 genes with MS severity according to the Multiple Sclerosis Severity Scale (MSSS) separately and as part of biallelic combinations, as well as the possible linkage disequilibrium of the studied single nucleotide polymorphisms for establishing the independence of the observed associations.Patients and methods. The investigation enrolled 468 Russian MS patients who did not take immunomodulating drugs before blood testing. The patients were divided into two groups: 1) relatively mild MS (MSSS ≤3.5) and 2) relatively severe MS (MSSS >3.5). The polymorphic variants in the PVT1 locus were genotyped by a real-time polymerase chain reaction assay.Results and discussion. In the MS study group, the carriage of the allele of PVT1 (rs2114358)*G turned out to be associated with the severe course of the disease (pf=0.042; odds ratio (OR)=1.41). The significance of the association increases in the simultaneous carriage of this allele with another variant of the same gene – PVT1 (rs4410871)*T (pf=0.024; OR=1.58). There was no linkage disequilibrium between the components of the biallelic combination.Conclusion. The polymorphic variants in the PVT1 locus are associated with the severity of MS.

Anti-NMDA receptor encephalitis is an autoimmune disease of the central nervous system caused by autoantibodies to the NR1 and NR2 subunits of the glutamate NMDA receptor, with the possibility of both death and rapid remission. The binding of these antibodies blocks receptors and causes slowly developing psychiatric disorders, motor disorders and seizures.Presented clinical observation in a 9-year-old patient. The disease debuted with prodromal flu-like symptoms, fever, headache and general weakness, after which neuropsychiatric symptoms, impaired memory and speech developed, further progression of the disease, convulsive status, and coma with a fatal outcome were noted. The final diagnosis of autoimmune encephalitis was made after identification of antibodies to the N-methyl-D-aspartate (NMDA) receptor in the blood.

Systemic lupus erythematosus (SLE) is a chronic autoimmune disease that affects any organs and systems and is characterized by a wide range of various clinical manifestations. According to the treat-to-target strategy for SLE, in addition to monitoring disease activity and irreversible organ damage, it is necessary to assess health-related quality of life (HRQOL), which enables one to obtain a complete and objective description of the patient. All the factors and problems that may worsen HRQOL should be also taken into account. Fatigue, pain, and depression are identified as the major symptoms that largely affect HRQOL. The impact of cognitive impairment associated with the disease is also considered. Impaired body image, i.e. the perception of his own appearance by a patient himself, is an important problem in patients with SLE. The unpredictable course of the disease and the impaired physical functioning of patients make it difficult to perform everyday activities, as well as disturb socialization; the patients often experience of being dependent on others. Due to SLE, the patients are often limited in their choice of profession or forced to quit/change their jobs, which leads to financial losses and feelings of social isolation. The review also considers gender, age, and education as factors influencing HRQOL in patients with SLE.

The review focuses on autoimmune encephalitis with antibodies to NMDA receptors, previously unknown autoimmune disease of the central nervous system, described in 2007. Anti-NMDAR encephalitis develops in adults and children, due to the tumor process and without it, it is manifested by characteristic syndrome of neurological and mental disorders. The authors separate anti-NMDAR encephalitis, which develops after the resolution of encephalitis caused by the herpes simplex virus-1. They describe the clinical manifestations of anti-NMDAR encephalitis in children and the effectiveness of early immunotherapy. Perspectively they discuss the pathogenesis of the disease, as well as the connection of herpes simplex virus infection and the development of anti-NMDAR encephalitis.

Thrombocytopenia in blood count may be a reflex of haemostatic problems of different origin – from autoimmune disease to iatrogenic nature. Sometimes, thrombocytopenia may be revealed in patient with coronary heart disease before PCI procedure as well as some hours or days later. Dual antithrombotic therapy and thrombocytopenia have the same main side effect – bleeding. Etiology of disease and details of medical decision before percutаneous coronary intervention (PCI) in CHD patients are discussed.

Giant cell myocarditis (GCM) is a rare autoimmune disease with the leading role of T-cell disorder in its pathogenesis. The associations are known of this disease with various autoimmunities, tumors, drug hypersensitivity. In the literary data there are just single cases of HCM development in HIV infected patients. The article presents clinical case and provides some discussion on the pathogenesis of HCM, making to think of HIV infection as one of possible causes of its development.

True (acantholytic) pemphigus is an autoimmune disease characterized by blisters and erosions in the skin and/or mucous tunics. True (acantholytic) pemphigus can be diagnosed based on an assessment of clinical manifestations and results of cytology, histology and immunology tests. The current diagnostics methods are characterized by certain advantages and shortcomings yet none of them has 100% sensitivity and specificity. To diagnose pemphigus, a complex of studies is needed taking into consideration the body of clinical symptoms and laboratory indices.

Acquired myasthenia gravis is an autoimmune disease, based on the imbalance of humoral and cellular immunity, characterized by weakness and fatigue of skeletal muscles, and in some cases involvement of the heart muscle. In most cases, the object of the autoimmune destruction is peripheral nicotinic acetylcholine receptors of the postsynaptic membrane of the neuromuscular synapse. In myasthenia gravis there has been identified a number of other antigenic targets: muscle-specific tyrosine kinase, lowdensity lipoprotein receptor-related protein 4, titin, and ryanodine receptors skeletal muscles. Their specificity and pathogenetic role have been disclosed, but it is about 15-20% of seronegative forms that require further immunological research. Accurate diagnosis depends on the efficient detection of clinical forms of myasthenia gravis and full analysis of the autoimmune mechanisms underlying the disease.

Introduction. Systemic lupus erythematosus (SLE) — severe autoimmune disease that has a high level of morbidity and mortality. With each decade the SLE incidence rate grows up. Current researches do not allow to identify the etiology of this disease. The polyclonal stimulation of T and B lymphocytes processes are prevailed in pathogenetic picture of the disease. One of the most powerful triggers of stimulation may be a gram-negative bacteria lipopolysaccharide (LPS) or endotoxin (ET). The impact activity is regulated by a specific humoral and cellular antiendotoxin immune response.Materials and methods. The study group involved 48 patients with SLE, the control group consisted of 40 healthy donors. The material of the study was the venous blood. The following indicators have been identified: the levels of specific anti-endotoxin antibodies (antiLPS IgA, IgM and IgG), by enzyme linked immunosorbent assay (ELISA); concentration of total immunoglobulins IgA, IgM and IgG — microturbidimethric method; the concentration of C-reactive protein (CRP) — ELISA; endogenous intoxication (EI) — a method of determining the average molecular weight for the absorption in the ultraviolet spectrum; circulating immune complexes (CIC) — the method of precipitation in polyethylene glycol. Statistical processing was performed using Microsoft Office Excel 2007 software and MedStat®.Results. The study showed a statistically significant increase in anti-LPSIgG SLE patients by 2.5 times compared with the control group. A slight increase in total IgG by 5%. Endogenous intoxication index in SLE patients was higher by 13.9%, CIC by 150%. The level of CRP in the study group was 6.8 times higher compared with the control. There were also identified the inverse correlation between anti-LPS-IgG and CRP, the inverse correlation between anti-LPS-IgG and EI, direct correlation between anti-LPS-IgA and the age of patients.Discussion. These results indicate the presence of dysfunction in the antiendotoxin immune response (AEIR) in SLE patients, namely increasing concentrations of specific anti-LPS-Ig. Identified growth of indicators of systemic inflammation correlated with indicators of AEIR, that confirms their mutual influence, which contributes to the lesion of organ-targets and can aggravate the manifestation and course of SLE. Normalization of AEIR, elimination of LPS may be a new way of treatment for SLE patients

Paraneoplastic cerebellar degeneration (PCD) is a rare form of the paraneoplastic neurological syndrome (PNS). PCD is an autoimmune disease of the central nervous system (CNS) affecting the Purkinje cells and possibly other cells of the cerebellum. PCD is characterized by a rapid onset resulting in disability for a few days or weeks; a slow progredient increase in cerebellar symptomatology is observed less often. PCD develops in 1–3% of cancer patients; its fraction accounts for 25% of all forms of PNS. The mean incidence rate of PCD is about 2 cases per 1,000 cancer patients. PCD develops in patients with cancer of the ovary, uterus and fallopian tubes, with small cell lung cancer and Hodgkin's lymphoma. The incidence rate among females is 3 times higher than that among males. Females aged 50–65 years are most likely to suffer from PCD. PCDs are divided into four main subgroups that differ in terms of prognosis and range of associated antineuronal antibodies. In the last decade, different classes of anti-onconeuronal antibodies associated with PCD have been described; 9 of them have been best studied. Anti-Yo and anti-Hu antibodies are most frequently detected upon PCD. PCD can be also diagnosed without anti-onconeuronal antibodies associated with it or their titer in the blood can be low. Differential diagnosis of PCD is complex and is conducted for a wide range of CNS diseases. No single approach to treating PCD currently exists. Surgical removal of the tumor, the source of production of anti-onconeuronal antigens, followed by radiotherapy and/or chemotherapy, does not solve the problem completely, but may reduce severity of the clinical manifestations of PCD or stabilize the pathological process. This explains the need for rapid and profound search for a tumor in patients suspected with PCD. The authors described a clinical case of an acute debut of PCD in 47-year-old female, 6 months after which, the patient was diagnosed with breast cancer. The problems of PCD diagnosis by neurologists are discussed. The importance of the interdisciplinary approach to diagnosis and follow-up monitoring of patients with this nosology is noted.

Diffuse toxic goiter (DTG) is an autoimmune disease, which is based on a congenital defect in the immune system. As a result of stimulating the synthesis of antibodies directed to the TSH receptor. Goiter forms gradually and then hyperthyroidism develops. For the last decades it has been pointed out a steady increase in the number of new cases of diffuse toxic goiter and drastic reduction of likelihood of remission. To some extent the spectrum of thyroid disease and the nature of the disease depend on the level of iodine provision in the particular region. Active iodine preventive measures were implemented among the population in Saint-Petersburg for the last decades. So the median urinary iodine increased from 105 (1999) to 148 mg/l (2010). Probably the growth of the iodine intake in Saint- Petersburg reduces the incidence of DTG remission and thus optimization of the treatment in these patients seems to be relevant and requires further study.

Objective: to estimate the levels of high-sensitivity C-reactive protein (hsCRP), interleukin-6 (IL-6), tumor necrosis factor-a (TNF-α), and soluble TNF-α receptor type 1 (sTNF-R1) in patients with antiphospholipid syndrome (APS) and their association with cardiovascular pathology. Subjects and methods. Ninety-six patients, including 52 with primary APS and 44 with systemic lupus erythematosus and APS, were examined. A control group comprised 29 individuals without the signs of autoimmune disease. The levels of hsCRP, IL-6, TNF-α, sTNF-R1, antiphospholipid antibodies, and plasma lipids were studied; ultrasonography measuring the carotid intima-media complex (IMC), electrocardiography (ECG), echocardiography, and Holter ECG monitoring were made. Results. The concentrations of hsCRP, IL-6, TNF-α, and sTNF-R1 were significantly higher in the patient groups than in the controls (p < 0.05). Elevated sTNF-R1 concentrations were more common in angina pectoris than in its absence (OR = 2.13; 95% CI [1.51; 2.99]; p < 0.001). In patients with damage to the valvular apparatus, IL-6, TNF-α, and sTNF-R1 concentrations were significantly higher than those in patients without the defects (p = 0.02, 0.02, and 0.01, respectively). The levels of TNF-α and sTNF-R1 were significantly higher in hypertensive patients than those in non-hypertensives (p = 0.002 and p < 0.001; respectively). The blood concentration of TNF-α was significantly higher in patients having the risk factors and subclinical signs of atherosclerosis that that in those without the signs and risk factors of atherosclerosis (p < 0.05). Analysis showed a direct correlation between the levels of TNF-α, hsCRP, IL-6, and sTNF-R1 and an inverse correlation of those of IL-6 and TNF-α with the duration of posttrombosis (p < 0.05). A correlation was found between the concentrations of TNF-α and sTNF-R1, and IMC of the great arteries, as well as the cumulative coronary risk (p < 0.05). Conclusion. In patients with APS, the levels of all the test markers were significantly higher than those in the controls. An association was revealed between the values of TNF-α and sTNF-R1 and the risk factors and subclinical signs of atherosclerosis.

Objective. To study (32 glycoprotein 1 contribution to frequency of aCL in pts with autoimmune and some infectious diseases. Methods. Antibodies to different phospholipids were tested by immune-enzyme method (IEM) in serum of 92 pts: 20 of them had systemic lupus erythematosus (SLE), 15 Sjogren’s disease (SD), 20 rheumatoid arthritis (RA), 20 syphilis and 17 Lyme disease (LD). Pts with syphilis and LD did not have clinical signs of autoimmune disease. Stimulation of aCL test in IEM was performed after previous cardiolipin incubation on microtitrated plates with electrophoretic pure p2 glycoprotein 1. Results. aCL were mostly revealed in serum of patients with SLE and syphilis, less often in SD. In aCL- positive serums antibodies to some other phospholipids were found. Mean values of stimulating aCL test in IEM after previous incubation with pure |32-glycoprotein 1 in autoimmune diseases were higher than in infection. aCL division into cofactor «dependent» and «independent» or autoimmune and infectious types seems to be not final.

Multiple sclerosis (MS) is a chronic inflammatory autoimmune disease of the central nervous system (CNS). Proteins of the immune system, as well as proteins that are involved in the infiltration of activated immune cells in the CNS, play an important role in the pathogenesis of MS. We investigated the association and linkage with MS of the following immune-system genes polymorphisms: HLA-DRB1, CTLA4, TGFB1, IL4, CCR5 and RANTES, as well as of the matrix metalloproteinase 9 (MMP9) and tissue inhibitor of metalloproteinase 1 (TIMP1) genes polymorphisms. For this purpose we used the transmission disequilibrium test (TDT). The group investigated was comprised of 100 nuclear families of Russian ethnicity, each consisting of an affected offspring and his nonaffected parents. It was found that HLA-DRB1*15 allele and MMP9*-1562C allele were transmitted from healthy heterozygous parents to affected children more frequently than alternative alleles (p = 0.02 and p = 0.04, respectively). Another family-based method, AFBAC (affected family-based control), showed MS association with HLA-DRB1*15, but not with the MMP9*-1562C allele.