AWARE – Expanding Awareness in Adults with Rare Errors of Immunity

AWARE – Expanding Awareness in Adults with Rare Errors of Immunity

Inborn errors of immunity (IEIs) are a group of rare conditions characterized by disruption of the physiological development or function of the immune system. IEIs are typically thought to occur in childhood because they are often associated with a genetic defect, but there are also several adult-onset IEIs. The symptoms are commonly represented by susceptibility to infectious diseases. However, clinical manifestations can also include autoimmunity, autoinflammatory diseases, and allergies, which might also represent the prominent clinical features leading to medical attention. Thus, different specialists in the fields of otolaryngology, pneumology, allergy, dermatology, rheumatology, or others may represent the first clinicians taking care of these patients and the first to have the chance to recognize the underlying IEI. Unfortunately, adult-onset IEIs present an average diagnostic delay of 6-7 years, often leading to chronic organ damage that may strongly affect quality of life and long-term survival. One of the critical steps to improve the care of adults with IEI is to achieve an earlier diagnosis (and treatment) before the onset of complications by enhancing knowledge and raising awareness of IEIs among the medical community.

With this task force, we aim to improve the awareness of IEIs in adults, starting from the perspective of a non-immunologist healthcare specialist by producing a scientific publication, a cartoon for the general audience, and lay material for the knowledge hub.

Basic and Clinical Immunology Section, WG: Immunodeficiencies

Chair: Federica Pulvirenti

Secretary: Francesco Cinetto