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Archives of Dermatological Research Nov 2023Previous studies found conflicting results about associations of vitiligo with different autoimmune diseases. To evaluate associations of vitiligo with multiple...
Previous studies found conflicting results about associations of vitiligo with different autoimmune diseases. To evaluate associations of vitiligo with multiple autoimmune diseases. A cross-sectional study representative of 612,084,148 US patients from the Nationwide Emergency Department Sample (NEDS) 2015-2019 was performed. Vitiligo and autoimmune diseases were identified using International Classification of Diseases-10 codes. The most frequent autoimmune disorders in patients with vitiligo were type 1 diabetes, rheumatoid arthritis, systemic lupus erythematosus (SLE), autoimmune thyroiditis, Addison's disease, and systemic sclerosis (SSc). Vitiligo was associated with any autoimmune disorder (adjusted odds ratio [95% confidence interval] 1.45 [1.32-1.58]). Cutaneous disorders with largest effect-sizes were alopecia areata (186.22 [115.31-300.72]) and SSc (32.13 [25.28-40.82]). Non-cutaneous comorbidities with largest effect-sizes were primary sclerosing cholangitis (43.12 [18.98-97.99]), pernicious anemia (41.26 [31.66-53.78]), Addison's disease (33.85 [26.68-42.9]), and autoimmune thyroiditis (31.65 [26.34-38.02]). Vitiligo is associated with multiple cutaneous and non-cutaneous autoimmune diseases, especially in females and older age.
Topics: Female; Humans; Vitiligo; Cross-Sectional Studies; Thyroiditis, Autoimmune; Addison Disease; Autoimmune Diseases; Skin; Hashimoto Disease
PubMed: 37405428
DOI: 10.1007/s00403-023-02661-y -
Seminars in Dermatology Mar 1995Neonatal lupus erythematosus (NLE) is a rare disorder characterized by congenital heart block and/or cutaneous disease and less commonly is associated with hepatic and... (Review)
Review
Neonatal lupus erythematosus (NLE) is a rare disorder characterized by congenital heart block and/or cutaneous disease and less commonly is associated with hepatic and hematological abnormalities. The majority of affected infants acquire Ro/SS-A (Ro) autoantibodies transplacentally from the maternal circulation and it is generally thought that these antibodies are pathogenic. Mothers at increased risk of having a child affected by NLE should be followed closely during pregnancy to detect the development of fetal heart block, as this is associated with significant morbidity and mortality. Mothers of affected infants are at increased risk of developing a rheumatic disease if they have not already done so.
Topics: Antibodies, Antinuclear; Autoimmune Diseases; Female; Fetal Diseases; Fetal Heart; Heart Block; Humans; Infant, Newborn; Lupus Erythematosus, Systemic; Placenta; Pregnancy; Pregnancy Complications
PubMed: 7742240
DOI: 10.1016/s1085-5629(05)80039-2 -
Seminars in Neurology Mar 1990LES is an autoimmune disorder of the neuromuscular junction in which autoantibodies directed against voltage-dependent Ca2+ channels block nerve-evoked Ca2+ entry at the... (Review)
Review
LES is an autoimmune disorder of the neuromuscular junction in which autoantibodies directed against voltage-dependent Ca2+ channels block nerve-evoked Ca2+ entry at the motor nerve terminal. The pathogenic IgG is likely to produce a similar inhibitory effect on the Ca2+ channel function in other cholinergic synapses of the autonomic nervous system. This pathophysiology is sufficient to account for the distinctive clinical, immunologic, and electrophysiologic manifestations in patients with LES. Etiology of this disease is uncertain but in view of its frequent association with small cell lung cancer, this specific type of neoplasm may be implicated in the initiation of autoimmune response. Recent studies indeed support the possibility that the antigenic stimulus in the neoplastic form of LES may arise from voltage-dependent Ca2+ channels found in the lung cancer cells.
Topics: Autoimmune Diseases; Humans; Lambert-Eaton Myasthenic Syndrome
PubMed: 2189179
DOI: 10.1055/s-2008-1041251 -
Autoimmunity Reviews Oct 2019The contribution of autoimmune phenomena to dysfunction of hypophysis or hypothalamus is far to be unraveled and also the specific pathways of hypophysitis are poorly... (Review)
Review
The contribution of autoimmune phenomena to dysfunction of hypophysis or hypothalamus is far to be unraveled and also the specific pathways of hypophysitis are poorly understood until now, mostly for the pediatric population. Primary hypophysitis is rare in children and often regarded as an autoimmune disorder, following the evidence of lymphoplasmacytic infiltration in the pituitary gland, detection of anti-pituitary antibodies (APA) and anti-hypotalamus antibodies (AHA) by indirect immunofluorescence on cryostatic sections of human or primate hypophysis and hypothalamus, and coexistence with other autoimmune disorders. The rarity of this condition and the lack of ad hoc studies make hard any assessment of the real incidence of hypophysitis in pediatric patients, and also the role of APA and AHA has been poorly investigated in children with idiopathic hypopituitarism. Potential target autoantigens studied in autoimmune hypophysitis have been various pituitary-specific factors, chaperone proteins, alpha-enolase, secretogranins, chorionic somatomammotropin and intracellular transcription factors. Many clinical features both endocrine and neurologic or systemic can herald the onset of autoimmune hypophysitis. Antidiuretic hormone deficiency with central diabetes insipidus and growth retardation are the most significant presenting symptoms in children with hypophysitis, requiring a careful differential diagnosis with other causes of hypopituitarism, including tumors of the sellar region, differently from adults in whom adrenal insufficiency, hypogonadism, headache or diplopia might be the leading manifestations. Growth hormone deficiency is found in 3/4 of pediatric cases. Five histologic variants of primary hypophysitis have been described: lymphocytic, granulomatous, xanthomatous, IgG4-related and necrotizing: lymphocytic hypophysitis is the most frequent variant in the pediatric sceneries. Children with diagnosis of hypophysitis are also at risk of developing germinomas later in life, and require an extended follow-up in the long-term. Therapeutic options should be differentiated according to the rapidity of disease progression and modality of clinical onset, as acute pictures might require corticosteroids or immunosuppressant agents, while chronic forms may need a conservative management or appropriate hormone replacement therapies. This review updates and summarizes the most recent information related to the autoimmune involvement of hypophysis and hypothalamus in children, discusses the correlations between APA, AHA and disease activity, as well as the recommendations for treatment of primary hypophysitis from the pediatric perspective.
Topics: Autoimmune Diseases; Child; Humans; Pituitary Diseases; Prognosis
PubMed: 31401342
DOI: 10.1016/j.autrev.2019.102363 -
Journal of Child and Adolescent... Nov 2022Few large-scale studies of pediatric acute-onset neuropsychiatric syndrome (PANS) and pediatric autoimmune neuropsychiatric disorder associated with streptococcal...
A Survey of Demographics, Symptom Course, Family History, and Barriers to Treatment in Children with Pediatric Acute-Onset Neuropsychiatric Disorders and Pediatric Autoimmune Neuropsychiatric Disorder Associated with Streptococcal Infections.
Few large-scale studies of pediatric acute-onset neuropsychiatric syndrome (PANS) and pediatric autoimmune neuropsychiatric disorder associated with streptococcal infections (PANDAS) have been conducted, and thus demographic data on these conditions are limited. The current study describes comorbid medical and psychiatric conditions in a self-referred cohort of children with PANS/PANDAS, along with treatment history, barriers to treatment, family medical and psychiatric history, and perceived caregiver burden in these conditions. A total of 441 primary caregivers of patients with infection-triggered PANS/PANDAS under the age of 18 were included in this online anonymous survey, reporting on a total of 490 children (due to some caregivers reporting multiple children in the family with PANS/PANDAS). Data were collected between July 2018 and May 2019. Primary caregivers completed questions pertaining to patient demographics, symptom presentation, disease course, family medical and psychiatric history, and severity of patients' obsessive-compulsive disorder (OCD) symptoms. OCD was the most common psychiatric symptom reported in children at the onset of PANS/PANDAS (83.06%), along with a high percentage of medical and psychiatric comorbidities. Most psychiatric comorbidities began or worsened at the onset of PANS/PANDAS symptoms, while major depressive disorder was the most frequently reported psychiatric disorder to develop after PANS/PANDAS onset (10%). A high frequency of autoimmune and inflammatory conditions was reported in family members, with nearly 30% of mothers endorsing one or more autoimmune conditions (29.95%). Mean caregiver burden (Caregiver Burden Inventory; = 44.0) fell above the "burnout" level, and standardized measures showed mildly elevated levels of depression, anxiety, and stress in caregivers (Depression, Anxiety, and Stress Scale-21; = 11.85, 7.16, and 15.56, respectively). Primary caregivers of children with PANS/PANDAS reported a multitude of medical and psychiatric comorbidities in their children, along with a high frequency of autoimmune and psychiatric conditions in family members. Obsessive-compulsive symptoms were the most frequently reported psychiatric symptom. Caregivers of these patients experience elevated levels of burden, stress, anxiety, and depression. Further research is needed to better understand the varied disease course in PANS/PANDAS and to develop interventions to reduce caregiver burden in these disorders.
Topics: Child; Humans; Depressive Disorder, Major; Streptococcal Infections; Obsessive-Compulsive Disorder; Autoimmune Diseases; Disease Progression; Demography
PubMed: 36383096
DOI: 10.1089/cap.2022.0063 -
The New England Journal of Medicine May 1983
Topics: Adult; Autoimmune Diseases; Collagen; Humans; Male; Smoking; Thromboangiitis Obliterans
PubMed: 6835341
DOI: 10.1056/NEJM198305123081910 -
Journal of Immunology Research 2018Cogan's syndrome (CS) is a rare autoimmune disorder characterized by audiovestibular dysfunction and ocular inflammation. Currently, there is no specific serum... (Review)
Review
Cogan's syndrome (CS) is a rare autoimmune disorder characterized by audiovestibular dysfunction and ocular inflammation. Currently, there is no specific serum autoantibody used in the diagnostic workup of CS. Treatment is based on immunosuppressive agents, mainly corticosteroids as first-line choice. Recently, novel therapeutic modalities in CS have emerged. These include tumor necrosis factor- inhibitors and other biologicals. Despite medical treatment, hearing loss may progress to irreversible bilateral profound SNHL in approximately half of CS patients resulting in candidacy for cochlear implantation (CI). Due to the inflammatory nature of the disease that is causing endosteal reaction with partial obliteration or complete neoossification of the intracochlear ducts, early CI is recommended. CI provides excellent and stable hearing rehabilitation with high score of word and sentence recognition. In this review, we will discuss different aspects of CS including clinical presentation, diagnosis, treatment, and future directives.
Topics: Animals; Autoantibodies; Autoimmune Diseases; Biological Products; Biomarkers; Cochlear Implantation; Cogan Syndrome; Ear, Inner; Hearing Loss; Humans; Immunosuppressive Agents; Labyrinth Diseases; Recovery of Function; Tumor Necrosis Factor-alpha; Vestibule, Labyrinth
PubMed: 29850616
DOI: 10.1155/2018/1498640 -
Journal of Clinical Neuroscience :... Jul 2003Lymphocytic hypophysitis is a rare but important cause of pituitary hypofunction which predominantly affects young women in the peripartum period. It is believed to be... (Review)
Review
Lymphocytic hypophysitis is a rare but important cause of pituitary hypofunction which predominantly affects young women in the peripartum period. It is believed to be an autoimmune disorder with an association with other autoimmune disorders and expression of anti-pituitary cytosolic and anti-nuclear antibodies. Clinically, it presents most frequently with symptoms and signs attributable to pituitary hypofunction, headache, visual disturbance and amenorrhoea. It is difficult to distinguish lymphocytic hypophysitis from a pituitary adenoma on pre-operative imaging and definitive diagnosis rests on histology which classically demonstrates destruction of anterior pituitary acini by an inflammatory infiltrate rich in plasma cells and T lymphocytes. Surgical management therefore plays a crucial role to obtain a histological diagnosis and to relieve pressure effects on the optic apparatus in patients with visual disturbances.
Topics: Adult; Aged; Autoimmune Diseases; Brain; Female; Humans; Hypopituitarism; Lymphocytes; Magnetic Resonance Imaging; Middle Aged; Pregnancy; Puerperal Disorders; Tomography, X-Ray Computed; Young Adult
PubMed: 12852876
DOI: 10.1016/s0967-5868(03)00094-8 -
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 -
Autoimmunity Reviews May 2011Autoimmune neutropenia, caused by neutrophil-specific autoantibodies is a common phenomenon in autoimmune disorders such as Felty's syndrome and systemic lupus... (Review)
Review
Autoimmune neutropenia, caused by neutrophil-specific autoantibodies is a common phenomenon in autoimmune disorders such as Felty's syndrome and systemic lupus erythematosus. Felty's syndrome is associated with neutropenia and splenomegaly in seropositive rheumatoid arthritis which can be severe and with recurrent bacterial infections. Neutropenia is also common in systemic lupus erythematosus and it is included in the current systemic lupus classification criteria. The pathobiology of the autoimmune neutropenia in Felty's syndrome and systemic lupus erythematosus is complex, and it could be a major cause of morbidity and mortality due to increased risk of sepsis. Treatment should be individualized on the basis of patient's clinical situation, and prevention or treatment of the infection. Recombinant human granulocyte colony-stimulating factor is a safe and effective therapeutic modality in management of autoimmune neutropenia associated with Felty's syndrome and systemic lupus erythematosus, which stimulates neutrophil production. There is a slight increased risk of exacerbation of the underlying autoimmune disorder, and recombinant human granulocyte colony-stimulating factor dose and frequency should be adjusted at the lowest effective dose.
Topics: Autoimmune Diseases; Felty Syndrome; Granulocyte Colony-Stimulating Factor; Humans; Lupus Erythematosus, Systemic; Neutropenia; Recombinant Proteins
PubMed: 21255689
DOI: 10.1016/j.autrev.2011.01.006