Disease

Hurler syndrome is a rare genetic disorder that is caused by a deficiency in the enzyme alpha-L-iduronidase. This enzyme is responsible for breaking down certain complex sugars in the body. Without this enzyme, these sugars accumulate in various tissues throughout the body, leading to a wide range of symptoms and Read more…

Overview Schnitzler syndrome is a rare autoinflammatory disorder that is characterized by chronic urticarial rash and monoclonal gammopathy. It was first described by Dr. Liliane Schnitzler in 1972, and since then, the understanding of the disease has grown significantly. The syndrome is often misdiagnosed, which leads to delayed treatment and Read more…

Pediatric Bruton agammaglobulinemia (BTK) is a rare X-linked primary immunodeficiency disorder that affects males almost exclusively. The disease is characterized by a deficiency of B-lymphocytes, which are responsible for the production of immunoglobulins. The lack of B-lymphocytes results in a severe reduction in the production of all classes of immunoglobulins, Read more…

Leukocyte Adhesion Deficiency (LAD) is a rare inherited disorder that affects the immune system. It is caused by a genetic mutation that results in impaired adhesion and migration of leukocytes, the white blood cells responsible for fighting infections. This essay will provide an overview of LAD, its causes, symptoms, diagnosis, Read more…

Overview Granulomatosis with polyangiitis (GPA), formerly known as Wegener’s granulomatosis, is a rare autoimmune disorder that primarily affects the respiratory tract, kidneys, and upper airways. It is characterized by the inflammation of blood vessels (vasculitis), granuloma formation, and autoantibody production. GPA is a type of anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis, Read more…

Goodpasture Syndrome, also known as anti-glomerular basement membrane (anti-GBM) disease, is a rare autoimmune disorder that affects the lungs and kidneys. It was first described by Ernest William Goodpasture in 1919. The disease is characterized by the formation of antibodies against the basement membrane of the lungs and kidneys, leading Read more…

Agammaglobulinemia, also known as primary immunodeficiency, is a rare genetic disorder characterized by the absence or extremely low levels of immunoglobulins in the bloodstream. Immunoglobulins, also known as antibodies, are a critical component of the immune system that helps to fight off infections caused by bacteria, viruses, and other pathogens. Read more…