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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)
Severe reduction in at least 2 serum immunoglobulin isotypes with normal or low number of B cells
TTC37 deficiency

Rare diseases

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

Primary immunodeficiencies (PID)
- 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
- 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

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

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

TTC37 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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