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

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

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Rare diseases
Primary immunodeficiencies (PID)
Medelian Susceptibility to mycobacterial disease (MSMD)
ISG15 deficiency

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

ISG15 deficiency

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Scientific societies & Patient organisations

Network coordination UMC Utrecht Heidelberglaan 100 3584 CX Utrecht Netherlands VAT NL004205315B01

MAIL US ern-rita@umcutrecht.nl

Quick links News & Events Reference centers Webinars Disease information RITA Registry About Contact & Endorsement

Streams Primary Immunodeficiencies (PID) Autoinflammatory Disorders (AID) Autoimmune Diseases (AI) Pediatric Rheumatic diseases (PR)

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Network coordination UMC Utrecht Heidelberglaan 100 3584 CX Utrecht Netherlands VAT NL004205315B01

MAIL US ern-rita@umcutrecht.nl

Quick links News & Events Reference centers Webinars Disease information RITA Registry About Contact & Endorsement

Streams Primary Immunodeficiencies (PID) Autoinflammatory Disorders (AID) Autoimmune Diseases (AI) Pediatric Rheumatic diseases (PR)

Subscribe to our Newsletter

Leave this field empty if you're human:

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