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Abstract Autoimmune diseases (AIDs) result from intricate interactions among genetic, environmental and immune factors, with emerging evidence underscoring the role of the central nervous system (CNS) in their pathogenes...

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED/APS-1) is a monogenic disorder of failed central tolerance caused by deleterious variants in the autoimmune regulator (AIRE) gene. Interferon-γ-driv...

Autoimmune diseases, such as systemic lupus erythematosus (SLE), are complex disorders characterized by an abnormal immune response. In these diseases, the immune system mistakenly identifies different body components as...

BackgroundB cell Expansion with NF-κB Activation and T cell Anergy (BENTA) disease is a rare inborn error of immunity caused by gain-of-function (GOF) variants in CARD11. It is characterized by early-onset lymphadenopat...

IntroductionAutoimmune hemolytic anemia (AIHA) is a rare disorder that can follow a chronic/refractory course. Therapeutic management beyond first-line steroids remains challenging in children. Different immunosuppressiv...

Encephalitis in immunocompromised individuals presents a unique diagnostic and treatment challenge due to the interplay between infection and immune dysregulation.A 48-year-old male with a history of recurrent sinusitis ...

Abstract Background The most investigated form of autoimmune-long-QT-syndrome (LQTS) is caused by circulating anti-Ro/SSA(Sjögren’s syndrome-related antigen-A)-52kD antibodies, which cross-react with a specific sequen...

Materias / palabras clave: Systemic lupus erythematosus; Autoimmune diseases; Lupus eritematoso sistémico; Enfermedades autoinmunes

Tubulointerstitial nephritis and uveitis syndrome is characterized by a combination of acute tubulointerstitial nephritis and uveitis. It is thought to be an autoimmune disease. Currently, 200 cases have been described i...

The application of Chimeric Antigen Receptor T-cell (CAR-T), CAR-engineered regulatory T cell (CAR-Treg) and hematopoietic stem cell (HSC) therapies has grown in recent years, driven by an increasing demand for robust, a...

Maintaining B-cell tolerance – the elimination of self-reactive B-cells – is literally a life-long challenge because the B-cell receptor mutates to generate millions of new variants during each immune response in the...

Introduction . Bed bugs belong to the family Cimicidae, which includes two cosmopolitan species: Cimex lectularius and Cimex hemipterus. Bed bugs feed on the blood of humans and animals. As a result of bites, skin change...

LPS-responsive beige-like anchor protein (LRBA) deficiency is a primary immunodeficiency belonging to the spectrum of common variable immunodeficiency disorders, frequently associated with immune dysregulation, autoimmun...

BackgroundItchy E3 ubiquitin ligase deficiency (ITCH deficiency) is a rare monogenic immune dysregulation syndrome characterized by early-onset multisystem autoimmunity and significant morbidity and mortality. Only one p...

Lymphocytic Infundibulo-Neurohypophysitis (LINH) is a rare autoimmune inflammatory disorder selectively involving the posterior pituitary and stalk, commonly presenting as Central Diabetes Insipidus (CDI). Due to its non...

Dermatitis herpetiformis is a rare, chronic, autoimmune blistering disease with hypersensitivity to gluten with the presence of intense pruritus. Symptoms of the disease are symmetrical, polymorphic skin lesions in a t...

Galectins, a family of animal lectins, play central roles in immune system regulation, shaping both innate and adaptive responses in physiological and pathological processes. These include rheumatoid arthritis (RA), a ch...

Dermatomyositis is an autoimmune disease characterized by skin lesions and/or symptoms of myositis. In addition to the so-called classic dermatomyositis the following forms of dermatomyositis are distinguished based on t...

IntroductionSjögren’s disease (SjD) is a chronic autoimmune disorder characterized by dry mouth (xerostomia) and dry eyes (xerophthalmia) due to inflammation in exocrine glands, particularly the salivary and lacrimal ...

Oral lesion’s profi le in autoimmune disease. Oral lesions are commonly found in patients with autoimmune diseases as manifestations of the disease or a side effect of the treatment. Oral lesions must be handled proper...

Non-infectious uveitis encompasses a diverse array of autoimmune ocular disorders marked by the breakdown of immune tolerance and recurrent inflammatory episodes. Regulatory T cells (Tregs) are integral to the maintenanc...

Massive pulmonary embolism (PE) is uncommon but potentially fatal, requiring immediate thrombolytic therapy. Thrombolysis, however, carries a significant bleeding risk and is generally contraindicated in cases of active ...