Helen Chapel

Primary immunodeficiencies (PIDs) in adults and children are rare disorders due to failure of the immune system - sometimes inherited as a single gene defect in infants but without evidence of inheritance in adults.
Oxford hosts the largest clinic for adult patients with common variable immunodeficiency disorders [CVIDs], which constitute the commonest forms of symptomatic immunodeficiency. These antibody failure syndromes are of unknown aetiology and likely to be polygenic in nature.

Clinical and laboratory research over the last 25 years has resulted in data enabling the definition of four distinct clinical phenotypes leading to improved prognosis and outcome prediction. Genetic studies are ongoing in these different phenotypes as well as functional studies of blood and bone marrow, to determine pathogenesis, so that improved treatments can be used for the wide ranging complications seen in CVID patients. Current therapy depends on replacing missing antibodies that protect against bacterial infections; details of optimal dosing have been published and are being incorporated into guidelines world-wide.