ERN RITA includes three main groups of diseases: Primary Immunodeficiencies, Autoinflammatory Diseases and Autoimmune Diseases of both adults and children.
Affected patients are at high risk of morbidity and mortality therefore highly specialized multidisciplinary teams are needed.
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 approach.
Genome-wide analysis platforms and functional immune assays are rapidly developing diagnostic tests shared by all three disease subgroups. These complex investigations cannot be available in all Centres throughout Europe therefore a network approach is crucial to ensure uniform patient access to care and reliable clinical results.
Immunological and genetic therapies are being discovered and implemented rapidly. Polyvalent immunoglobulin therapy, for example, has revolutionised the outlook for antibody deficient patients, specific anti-cytokine (anti TNF, anti IL-1 etc) treatments have changed the lives of many patients with rare autoimmune and autoinflammatory conditions.
This network, built upby the will of European Scientific Societies,aims to develop patient registries, guidelines, research collaborations, education and training initiatives in close collaboration with national and European patients’ organizations.
Code ORPHA | Code ERN | Denomination |
---|---|---|
ORPHA:117 | Behcet's disease (BD) | |
ORPHA:140989 | Primary central nervous system vasculitis (PCNSV) | |
ORPHA:1451 | CINCA Syndrome, Cryopyrinopathies (CAPS) | |
ORPHA:1467 | Cogan Syndrome (CS) | |
ORPHA:183 | Eosinophilic granulomatosis with polyangiitis (EGPA) | |
ORPHA:2331 | Kawasaki disease (KD) | |
ORPHA:3287 | Takayasu's arteritis (TA) | |
ORPHA:32960 | TRAPS recurrent fever (TRAPS) | |
ORPHA:342 | Familial Mediterranean Fever (FMF) | |
ORPHA:343 | PARTIAL Mevalonatokinase (MVK) Deficiency | |
ORPHA:36412 | Hypocomplementemic urticarial vasculitis (HUVS) | |
ORPHA:375 | Goodpasture syndrome | |
ORPHA:42642 | FAPA syndrome (FAPA) | |
ORPHA:439729 | Cutaneous polyarteritis nodosa (cPAN) | |
ORPHA:69126 | PAPA Syndrome (PAPA) | |
ORPHA:727 | Microscopic polyangiitis (MPA) | |
ORPHA:761 | Immunoglobulin A (IgAV) vasculitis | |
ORPHA:767 | Polyarteritis Nodosa (PAN) | |
ORPHA:85408 | RF-negative polyarticular juvenile idiopathic arthritis (RF-pJIA) | |
ORPHA:85411 | Oligoarticular Juvenile Idiopathic Arthritis | |
ORPHA:85414 | Systemic juvenile idiopathic arthritis or Still's disease (sJIA) | |
ORPHA:85435 | RF-positive polyarticular juvenile idiopathic arthritis (RF+pJIA) | |
ORPHA:900 | Granulomatosis with polyangiitis (GPA) | |
ORPHA:91139 | Simple cryoglobulinemia, type I | |
ORPHA:93554 | Cryoglobulinaemia, type II | |
ORPHA:93555 | Cryoglobulinemiamic, type III |