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ERN-RITA

ERN-RITA

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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  • Activities
    • MeRITA Registry
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  • Patients
    • ERNs and ePAGs
    • RIPAG
  • About
    • RITA: A Unique Opportunity
    • Mission, Goals and Objectives
    • Governance
    • RITA Membership
    • Scientific societies, stakeholders
    • About ERNS
    • Monitoring
  • Rare diseases
  • Primary immunodeficiencies (PID)
  • Combined immunodeficiencies generally less profound than severe combined immunodeficiency
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)
    • 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
    • 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

Combined immunodeficiencies generally less profound than severe combined immunodeficiency

Disease information Hide
LinksIPOPI
Patient organisations Show
LinksIPOPI - International Patient Organisation for Primary Immunodeficiencies HAE Junior

Diseases

CTPS1 deficiencyDisease detail Omenn syndromeDisease detail NIK deficiencyDisease detail CD27 deficiencyDisease detail IKBKB deficiencyDisease detail LRBA deficiencyDisease detail IL-21R deficiencyDisease detail OX40 deficiencyDisease detail IL-21 deficiencyDisease detail BCL10 deficiencyDisease detail CARD11 deficiencyDisease detail MALT1 deficiencyDisease detail TCRα deficiencyDisease detail LCK deficiencyDisease detail MST1 deficiencyDisease detail RhoH deficiencyDisease detail DOCK8 deficiencyDisease detail MAGT1 deficiencyDisease detail ITK deficiencyDisease detail MHC class II deficiency group DDisease detail MHC class II deficiency group CDisease detail MHC class II deficiency group BDisease detail MHC class II deficiency group ADisease detail MHC class I deficiencyDisease detail ZAP-70 deficiencyDisease detail CD8 deficiencyDisease detail CD3γ deficiencyDisease detail ICOS deficiencyDisease detail CD40 deficiencyDisease detail CD40 ligand deficiencyDisease detail DOCK2 deficiencyDisease detail
→ Access the newsletter archive

Scientific societies & Patient organisations

Network coordination

UMC Utrecht
Heidelberglaan 100
3584 CX Utrecht
Netherlands
VAT NL004205315B01

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The contents of this webpage are the sole responsibility of ERN-RITA and do not necessarily reflect the opinion of the European Union. 

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