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Revista Colombiana de Psiquiatria... 2022Since 1980, there have been known cases of childhood neuropsychiatric syndromes in the world and its concept has evolved with changes in the definitions in 1995 (PITANDs...
INTRODUCTION
Since 1980, there have been known cases of childhood neuropsychiatric syndromes in the world and its concept has evolved with changes in the definitions in 1995 (PITANDs - paediatric infection-triggered autoimmune neuropsychiatric disorders), 1998 (PANDAS - paediatric autoimmune neuropsychiatric syndrome associated with streptococci infection), 2010 (PANS - paediatric acute-onset neuropsychiatric syndrome) and 2012 (CANS - childhood acute neuropsychiatric syndrome). Despite being known for more than 20 years, it is still an illness that often goes unnoticed by many health professionals.
OBJECTIVE
To sensitise the medical community about the identification of the disease and reduce the morbidity associated with a late diagnosis.
CLINICAL CASE
A 6-year-old schoolgirl brought to the emergency department due to her refusal to eat. In the hospital treatment, a clinical history was identified with PANS-PANDAS diagnostic criteria. She exhibited a relapsing-remitting clinical course, as described in the literature, with poor response to first-line treatments.
CONCLUSIONS
In all school-age child presenting with obsessive compulsive disorder or eating disorders, with other symptoms or not, a possible link to PANS-CANS should be evaluated and ruled out.
Topics: Female; Child; Humans; Obsessive-Compulsive Disorder; Streptococcal Infections; Autoimmune Diseases; Syndrome
PubMed: 36446706
DOI: 10.1016/j.rcpeng.2020.11.013 -
Journal of Neuroimmunology Dec 2022Autoimmune obsessive-compulsive disorder (OCD) in the context of pediatric autoimmune neuropsychiatric disorder associated with streptococcal infections (PANDAS) has...
INTRODUCTION
Autoimmune obsessive-compulsive disorder (OCD) in the context of pediatric autoimmune neuropsychiatric disorder associated with streptococcal infections (PANDAS) has been observed for decades. The first cases of autoimmune OCD in adulthood were recently described. An association between obsessive-compulsive symptoms (OCS) and systemic autoimmune diseases in the form of connective tissue disease has also been reported. However, whether an association exists between OCD and sarcoidosis is unknown.
CASE STUDY
Here, the authors present an end 20-year-old female patient with symptoms of OCD in whom an advanced diagnostic work-up revealed inflammatory cerebrospinal fluid (CSF) changes (elevated IgG index, CSF-specific oligoclonal bands, intrathecal IgG synthesis, and a positive MRZ reaction). In tissue-based assays using unfixed mouse brain sections, both serum and CSF showed a distinct antinuclear antibody pattern with perinuclear staining. Electroencephalography identified frontocentral theta spindles. Upon endobronchial-guided lymph node biopsy demonstrating non-caseating lymph nodes in further work-up, sarcoidosis was diagnosed. Levels of the sarcoidosis parameters IL-2-R and neopterin were increased. Under immunotherapy for sarcoidosis, the OCS seemed to improve.
DISCUSSION
This case study is paradigmatic, as an association between sarcoidosis and OCD has not been previously reported. After exclusion of alternative causes, the inflammatory CSF changes would be compatible with an inflammatory brain involvement of sarcoidosis. Autoimmune OCD may occur more frequently than is thought, probably also in the context of neurosarcoidosis. This could open up new opportunities through immunotherapies in rare cases with OCD.
Topics: Animals; Female; Mice; Streptococcal Infections; Obsessive-Compulsive Disorder; Autoimmune Diseases; Sarcoidosis; Immunoglobulin G
PubMed: 36308776
DOI: 10.1016/j.jneuroim.2022.577989 -
The Korean Journal of Gastroenterology... Jan 2020Non-celiac gluten sensitivity (NCGS) is a term that is used to describe individuals who are not affected by celiac disease or wheat allergy, yet they have intestinal... (Review)
Review
Non-celiac gluten sensitivity (NCGS) is a term that is used to describe individuals who are not affected by celiac disease or wheat allergy, yet they have intestinal and/or extra-intestinal symptoms related to gluten ingestion with improvement of their symptoms upon withdrawing gluten from their diet. Gluten-related disorder groups are manifested by symptoms of gastrointestinal tract disorders, as well as hematological dermatological endocrinological, gynecological, rheumatological and nervous system symptoms. It is believed that NCGS represents heterogeneous groups with different subgroups characterized by different etiologies, clinical histories and clinical courses. There also appears to be an overlap between NCGS and irritable bowel syndrome (IBS). There is a need for establishing strict criteria for diagnosing NCGS. The absence of validated biomarkers remains a significant limitation for research studies on NCGS. New evidence shows that a gluten-free diet may be beneficial for some patients with gastrointestinal symptoms, such as those symptoms commonly found in patients with IBS. Further studies about NCGS are needed.
Topics: Abdominal Pain; Autoimmune Diseases; Diet, Gluten-Free; Food Hypersensitivity; Gastrointestinal Diseases; Glutens; Irritable Bowel Syndrome
PubMed: 31986568
DOI: 10.4166/kjg.2020.75.1.11 -
International Journal of Molecular... Aug 2023The cyclic GMP-AMP synthase (cGAS)-stimulator of interferon genes (STING) pathway plays a significant role in health and disease. In this pathway, cGAS, one of the major... (Review)
Review
The cyclic GMP-AMP synthase (cGAS)-stimulator of interferon genes (STING) pathway plays a significant role in health and disease. In this pathway, cGAS, one of the major cytosolic DNA sensors in mammalian cells, regulates innate immunity and the STING-dependent production of pro-inflammatory cytokines, including type-I interferon. Moreover, the cGAS-STING pathway is integral to other cellular processes, such as cell death, cell senescence, and autophagy. Activation of the cGAS-STING pathway by "self" DNA is also attributed to various infectious diseases and autoimmune or inflammatory conditions. In addition, the cGAS-STING pathway activation functions as a link between innate and adaptive immunity, leading to the inhibition or facilitation of tumorigenesis; therefore, research targeting this pathway can provide novel clues for clinical applications to treat infectious, inflammatory, and autoimmune diseases and even cancer. In this review, we focus on the cGAS-STING pathway and its corresponding cellular and molecular mechanisms in health and disease.
Topics: Animals; Adaptive Immunity; Autoimmune Diseases; Autophagy; Interferon Type I; Mammals; Nucleotidyltransferases
PubMed: 37686127
DOI: 10.3390/ijms241713316 -
Continuum (Minneapolis, Minn.) Jun 2023This article describes the neurologic manifestations of systemic rheumatologic disorders.
OBJECTIVE
This article describes the neurologic manifestations of systemic rheumatologic disorders.
LATEST DEVELOPMENTS
Although most have historically been classified as autoimmune disorders, rheumatologic diseases are increasingly conceptualized as distributed along a spectrum with various contributions of autoimmune (adaptive immune dysregulation) and autoinflammatory (innate immune dysregulation) mechanisms. Our evolving understanding of systemic immune-mediated disorders has been accompanied by an expansion in our differential diagnoses and therapeutic options.
ESSENTIAL POINTS
Rheumatologic disease involves both autoimmune and autoinflammatory mechanisms. Neurologic symptoms can be the first manifestation of these disorders, and familiarity with the systemic manifestations of specific diseases is essential to establish the correct diagnosis. Conversely, knowledge of the neurologic syndromes that are most likely to be associated with specific systemic disorders can help narrow the differential and increase confidence when attributing a neuropsychiatric symptom to an underlying systemic disorder.
Topics: Humans; Autoimmune Diseases; Diagnosis, Differential; Syndrome; Arthritis, Rheumatoid
PubMed: 37341329
DOI: 10.1212/CON.0000000000001263 -
Immunity, Inflammation and Disease Nov 2023Autoimmune diseases, including rheumatoid arthritis that is the most prevalent rheumatic autoimmune disorder, affect autologous connective tissues caused by the... (Review)
Review
Autoimmune diseases, including rheumatoid arthritis that is the most prevalent rheumatic autoimmune disorder, affect autologous connective tissues caused by the breakdown of the self-tolerance mechanisms of the immune system. During the last two decades, cell-based therapy, including stem cells and none-stem cells has been increasingly considered as a therapeutic option in various diseases. This is partly due to the unique properties of stem cells that divide and differentiate from the specialized cells in the damaged tissue. Moreover, stem cells and none-stem cells, impose immunomodulatory properties affecting the diseases caused by immunological abnormalities such as rheumatic autoimmune disorders. In the present review, the efficacy of cell-based therapy with four main types of stem cells, including mesenchymal stem cells, hematopoietic stem cells, embryonic stem cells, and human amniotic membrane cells, as well as none-stem cells, including regulatory T cells, chimeric antigen receptor T cells, and tolerogenic dendritic cells will be evaluated. Moreover, other related issues, including safety, changes in immunological parameters, suitable choice of stem cell and none-stem cell origin, conditioning regimen, limitations, and complications will be discussed.
Topics: Humans; Arthritis, Rheumatoid; Autoimmune Diseases; Mesenchymal Stem Cells; Immune Tolerance; Immunomodulation
PubMed: 38018576
DOI: 10.1002/iid3.1091 -
The American Journal of Psychiatry Apr 2023Objective: Emerging evidence supports a bidirectional phenotypic association between stress-related disorders and autoimmune disease. However, the biological...
Objective: Emerging evidence supports a bidirectional phenotypic association between stress-related disorders and autoimmune disease. However, the biological underpinnings remain unclear. Here, the authors examined whether and how shared genetics contribute to the observed phenotypic associations. Methods: Based on data from 4,123,631 individuals identified from Swedish nationwide registers, familial coaggregation of stress-related disorders (any disorder or posttraumatic stress disorder [PTSD]) and autoimmune disease were initially estimated in seven cohorts with different degrees of kinship. Polygenic risk score (PRS) analyses were then performed with individual-level genotyping data from 376,871 participants in the UK Biobank study. Finally, genetic correlation analyses and enrichment analyses were performed with genome-wide association study (GWAS) summary statistics. Results: Familial coaggregation analyses revealed decreasing odds of concurrence of stress-related disorders and autoimmune disease with descending kinship or genetic relatedness between pairs of relatives; adjusted odds ratios were 1.51 (95% CI=1.09–2.07), 1.28 (95% CI=0.97–1.68), 1.16 (95% CI=1.14–1.18), and 1.01 (95% CI=0.98–1.03) for monozygotic twins, dizygotic twins, full siblings, and half cousins, respectively. Statistically significant positive associations were observed between PRSs of stress-related disorders and autoimmune disease, as well as between PRSs of autoimmune disease and stress-related disorders. GWAS summary statistics revealed a genetic correlation of 0.26 (95% CI=0.14–0.38) between these two phenotypes and identified 10 common genes and five shared functional modules, including one module related to G-protein–coupled receptor pathways. Similar analyses performed for PTSD and specific autoimmune diseases (e.g., autoimmune thyroid disease) largely recapitulated the results of the main analyses. Conclusions: This study demonstrated familial coaggregation, genetic correlation, and common biological pathways between stress-related disorders and autoimmune disease.
Topics: Humans; Autoimmune Diseases; Genome-Wide Association Study; Genetic Predisposition to Disease
PubMed: 37002690
DOI: 10.1176/appi.ajp.20220364 -
Clinical and Experimental Rheumatology Mar 2023Dermatomyositis (DM) is an autoimmune disorder in which clinically amyopathic DM, characterised by hallmark cutaneous findings in the absence of clinical weakness,... (Review)
Review
Dermatomyositis (DM) is an autoimmune disorder in which clinically amyopathic DM, characterised by hallmark cutaneous findings in the absence of clinical weakness, represents 20% of patients. This review will highlight current concepts and recent advances made in DM from a dermatological perspective, with a discussion of skin-predominant DM and its distinct challenges regarding diagnosis and management as well as their implications in clinical trials. An update will be presented with respect to classification criteria, pathogenesis in cutaneous DM, myositis-specific autoantibodies and their associations with cutaneous findings, skin-specific outcome measures and new therapeutics with their efficacy in skin disease.
Topics: Humans; Dermatomyositis; Skin; Myositis; Autoimmune Diseases; Autoantibodies
PubMed: 36622138
DOI: 10.55563/clinexprheumatol/ue71ku -
British Journal of Haematology Jun 2022Sickle cell disease (SCD) is an inherited disorder, which occurs due to a single gene mutation. It has multisystemic manifestations, affecting millions of people... (Review)
Review
Sickle cell disease (SCD) is an inherited disorder, which occurs due to a single gene mutation. It has multisystemic manifestations, affecting millions of people worldwide. The effect of SCD on joints and musculature can overlap with clinical features of autoimmune disease (AD). It is therefore difficult for clinical haematologists and physicians treating SCD patients to discriminate between these two conditions clinically. A delay in diagnosis leads to untreated symptoms and treatment differs considerably. An accurate knowledge of clinical findings and laboratory results of AD and SCD can help physicians avoid this. In the review that follows, we examine the existing literature on SCD and AD, and describe the features that may distinguish SCD and autoimmune disease such as systemic lupus erythematosus and rheumatoid arthritis. We aim to guide clinical haematologists and physicians towards a more rapid diagnosis of AD in sickle cell anaemia patients, by correct interpretation of the clinical assessment and commonly available diagnostics.
Topics: Anemia, Sickle Cell; Arthritis, Rheumatoid; Autoimmune Diseases; Diagnosis, Differential; Humans; Lupus Erythematosus, Systemic
PubMed: 35244209
DOI: 10.1111/bjh.18109 -
The Journal of Applied Laboratory... Apr 2021
Topics: Alzheimer Disease; Autoimmune Diseases; Humans
PubMed: 33517411
DOI: 10.1093/jalm/jfaa235