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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
  • Autoinflammatory disorders (AID)
  • Type 1 Interferonopathies
Rare diseases
  • Primary immunodeficiencies (PID)
    • 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
    • Combined immunodeficiencies generally less profound than severe combined immunodeficiency
    • Familial hemophagocytic lymphohistiocytosis (FHL) syndromes with hypopigmentation
  • Pediatric Rheumatic diseases (PR)
    • Bone disease
    • Paediatric vasculitis
    • Juvenile Arthritis
    • Miscellaneous
    • Systemic autoimmune disease
  • Autoimmune diseases (AI)
    • Autoimmune systemic vasculitis adult and paediatric
    • Autoimmune Neuroinflammation Adult and Paediatric
  • Autoinflammatory disorders (AID)
    • Monogenic Inflammatory bowel diseases
    • Miscellaneous
    • Defects affecting the inflammasome
    • Non inflammasome-related conditions
    • Type 1 Interferonopathies

Type 1 Interferonopathies

Disease information Hide
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Patient organisations Show
LinksHAE Junior

Diseases

Autosomal recessive Systemic Lupus ErythematousDisease detail CANDLE (chronic atypical neutrophilic dermatitis with lipodystrophy)Disease detail STING–associated vasculopathy, infantileonsetDisease detail Spondyloenchondro-dysplasia with immune dysregulation (SPENCD)Disease detail Aicardi-Goutieres syndrome 7 (AGS7)Disease detail ADAR1 deficiency, AGS6Disease detail Familial chillblain lupus 2Disease detail SAMHD1 deficiency, AGS5Disease detail RNASEH2A deficiency, AGS4Disease detail RNASEH2C deficiency, AGS3Disease detail RNASEH2B deficiency, AGS2Disease detail Familial chillblain lupus 1Disease detail TREX1 deficiency, Aicardi-Goutieres syndrome 1 (AGS1)Disease detail
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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. 

© 2021 ERN RITA. All rights reserved. The RITA logo was designed by Luis Bordalo.