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European Reference Network for Immunodeficiency, Autoinflammatory, Autimmune and Pediatric Rheumatic disea

The European Reference Network that aims at improving the care of patients with Rare Immunological Disorders

Reference centers
Disease information
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Patients
- ERNs and ePAGs
- RIPAG
About

Rare diseases
Autoimmune diseases (AI)
Autoimmune Neuroinflammation Adult and Paediatric
Limbic encephalitis

Rare diseases

Pediatric Rheumatic diseases (PR)
- Juvenile Arthritis
- Miscellaneous
- Systemic autoimmune disease
- Bone disease
- Paediatric vasculitis

Autoimmune diseases (AI)
- Autoimmune systemic vasculitis adult and paediatric
- Autoimmune Neuroinflammation Adult and Paediatric

Autoinflammatory disorders (AID)
- Defects affecting the inflammasome
- Non inflammasome-related conditions
- Type 1 Interferonopathies
- Monogenic Inflammatory bowel diseases
- Miscellaneous

Primary immunodeficiencies (PID)
- Anhidrotic ectodermaldysplasia with immunodeficiency (EDA-ID)
- Defects of Respiratory Burst
- Calcium channel defects
- Medelian Susceptibility to mycobacterial disease (MSMD)
- Other defects
- Epidermodysplasia verruciformis
- Severe reduction in all serum immunoglobulin isotypes with profoundly decreased or absent B cells
- Predisposition to severe viral infection
- Severe reduction in at least 2 serum immunoglobulin isotypes with normal or low number of B cells
- Herpes simplex encephalitis (HSE)
- Severe reduction in serum IgG and IgA with normal/elevated IgM and normal numbers of B cells
- Predisposition to invasive fungal diseases
- T−B+ Severe Combined Immunodeficiency (SCID)
- Isotype or light chain deficiencies with generally normal numbers of B cells
- Chronic mucocutaneous candidiasis (CMC)
- T−B− SCID DNA recombination defects
- Familial hemophagocytic lymphohistiocytosis (FHL) syndromes without hypopigmentation
- TLR signaling pathway deficiency
- Combined immunodeficiencies generally less profound than severe combined immunodeficiency
- Familial hemophagocytic lymphohistiocytosis (FHL) syndromes with hypopigmentation
- Congenital thrombocytopenia
- T regulatory cells genetic defects
- DNA repair defects (other than those in group 1)
- Autoimmunity with or without lymphoproliferation
- Thymic defects with additional congenital anomalies
- Autoimmune lymphoproliferative syndrome (ALPS)
- Immune-osseous dysplasias
- Immune dysregulation with colitis
- Hyper-IgE syndromes (HIES)
- Type 1 Interferonopathies
- Dyskeratosis congenita (DKC) with bone marrow failure and dysfunctional telomere maintenance
- Congenital neutropenias
- Defects of Vitamin B12 and Folate metabolism
- Defects of Motility

Limbic encephalitis

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