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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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      • Journey of a patient with small vessel vasculitis
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      • Patient Journeys Handbook
    • Transition of care
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  • About
    • RITA: A Unique Opportunity
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  • Rare diseases
  • Autoinflammatory disorders (AID)
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Rare diseases
  • Pediatric Rheumatic diseases (PR)
    • Paediatric vasculitis
    • Juvenile Arthritis
    • Miscellaneous
    • Systemic autoimmune disease
    • Bone disease
  • Autoimmune diseases (AI)
    • Autoimmune systemic vasculitis adult and paediatric
    • Autoimmune Neuroinflammation Adult and Paediatric
  • Autoinflammatory disorders (AID)
    • Miscellaneous
    • Defects affecting the inflammasome
    • Non inflammasome-related conditions
    • Type 1 Interferonopathies
    • Monogenic Inflammatory bowel diseases
  • Primary immunodeficiencies (PID)
    • 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
    • Combined immunodeficiencies generally less profound than severe combined immunodeficiency
    • Familial hemophagocytic lymphohistiocytosis (FHL) syndromes with hypopigmentation
    • Congenital thrombocytopenia
    • T regulatory cells genetic defects

Miscellaneous

Disease information Hide
LinksFor clinicians and scientistsFor patients
Patient organisations Show
LinksFMF & AID Global AssociationRACC-UKAIPO z.s.Simba associazione italiana sindrome e malattia di behcetFMF Spain

Diseases

Systemic amyloidosisDisease detail Secondary AA amyloidosisDisease detail Chronic Inflammatory Demyelinating Polyneuropathy (CIDP)Disease detail H syndromeDisease detail PLAID (PLCγ2 associated antibody deficiency and immune dysregulation) Familial cold autoinflammatory syndrome 3Disease detail Defects in the complement system D84.1 (C1 esterase inhibitor [C1-INH] deficiency)Disease detail

Scientific societies & Patient organisations

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

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

The content of this webpage is the sole responsibility of ERN-RITA and does not necessarily reflect the opinion of the European Union. © 2024 ERN-RITA. All rights reserved. The RITA logo was designed by Luis Bordalo.