Hurler syndrome

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…

Schnitzler Syndrome

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…

Granulomatosis with Polyangiitis

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

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

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…