Immunology, a young discipline
Originating from the discovery of innate and adaptive immune responses in the last century. Classical PID comprises about 300 genetically defined entities.
The field has evolved rapidly from the identification of rare immunodeficiencies broadly predisposing to infection, to the recognition of specific rare immune disorders with increased susceptibility to defined pathogens, to disturbed immunoregulatory balances and defective tolerance to self-antigens. Thus defined errors in the immune system can result not only in the clinical entities of immune deficiency, autoimmunity and autoinflammation, but also in conditions with features of 2 or 3 of these pathologic processes. Clinical care will be best improved by linking care within RITA.
Towards European harmonisation of health care for patients with rare immune disorders
RITA brings a unique opportunity to cross-fertilise diagnostic and therapeutic advances, shared approaches to management and economies of scale across the three streams, given the common set of challenges and opportunities arise:
- Each individual disease is caused by genetic and/or functional defects of immune cells and thus requires immunological expertise to understand pathomechanisms and devise novel therapeutic
- Genome-wide analysis platforms and functional immune assays are rapidly developing diagnostic tests shared across all subthemes. These complex investigations cannot be available in all centres and a network approach is vital to ensure uniform patient access and reliable accredited results.
Immunological therapies are being discovered and implemented rapidly. Polyvalent immunoglobulin therapy has revolutionised the outlook for antibody deficient patients, specific anti-cytokine (anti TNF, anti IL-1 etc) treatments, have transformed the lives of patients with rare autoimmune and autoinflammatory conditions, and stem cell and gene-based therapies originally for PID, are now being applied for all the diseases covered by the proposed network and for the first time enable patients to be completely cured with no need for ongoing medical care.