Primary immunodeficiencies (PIDs) are a large and growing group of over 400 different disorders caused when some components of the immune system (mainly cells and proteins) do not work properly.
Whilst PIDs are generally recognised as rare disorders, some are more common than others and taken as a whole they represent an important group of people whose lives are profoundly impacted by their condition.
Haemophilia is a rare congenital bleeding disorder that occurs in people with a limited amount of either clotting factor VIII/ 8 (haemophilia A) or clotting factor IX/ 9 (haemophilia B). The severity of the disease will depend on the level of clotting factors present in the body as outlined in the table below.
Alpha-1 Antitrypsin Deficiency (Alpha-1) is a genetic (inherited) condition – it is passed from parents to their children through their genes. Alpha-1 may result in serious lung disease in adults and/or liver disease at any age.
People with Alpha-1 have received two abnormal alpha-1 antitrypsin genes. One of these abnormal genes came from their mother and one from their father.
Hereditary angioedema (HAE) is a very rare and potentially life-threatening genetic condition that occurs in about 1 in 10,000 to 1 in 50,000 people.
HAE symptoms include episodes of edema (swelling) in various body parts including the hands, feet, face and airway. In addition, patients often have bouts of excruciating abdominal pain, nausea and vomiting that is caused by swelling in the intestinal wall. Airway swelling is particularly dangerous and can lead to death by asphyxiation.
Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) is a chronic inflammatory disorder of the peripheral nerves (the nerves outside the brain and spinal cord). It is characterized by progressive weakness and sensory loss in the patient’s arms and legs, typically on both sides of the body. It can start at any age and usually develops over a course of 6-to-10 weeks. If left untreated, patients with CIDP may progress to wheelchair dependence. A variant of CIDP, called Multifocal Motor Neuropathy (MMN), causes asymmetrical weakness in a patient’s limbs. Patients with CIDP and MMN generally require ongoing treatment. The acute variant, called Guillain-Barré Syndrome (GBS), also requires treatment, but usually is monophasic and self-limiting.
Immune thrombocytopenia (formerly known as idiopathic thrombocytopenic purpura) is a medical term for an autoimmune disorder (immune) causing a shortage of platelets (thrombocytopenia) and bruising (purpura).
ITP is an autoimmune disease in which the immune system mistakes the platelets as being foreign and destroys them. It can follow a virus, vaccination or certain medications, but for most people the cause is unknown.