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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
  • Virtual consultations
  • Activities
    • MeRITA Registry
    • Webinars
    • Working Groups
  • 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)
  • Non inflammasome-related conditions
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)
    • 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
    • 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

Non inflammasome-related conditions

Disease information Hide
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Diseases

Recurrent idiopathic pericarditisDisease detail SAPHO Syndrome (synovitis, acne, pustulosis, hyperostosis, and osteitis)Disease detail Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA)Disease detail Outulin deficiencyDisease detail Familial cold autoinflammatory syndrome-2 (FCAS2) E85.0Disease detail Defects in the complement system D84.1 (C1 esterase inhibitor [C1-INH] deficiency)Disease detail Chronic recurrent multifocal osteomyelitis (CRMO)Disease detail COPA defectDisease detail ADA2 deficiencyDisease detail CherubismDisease detail CAMPS (CARD14 mediated psoriasis)Disease detail SLC29A3 mutation (H syndrome)Disease detail DITRA – Deficiency of IL-36 receptor antagonistDisease detail Chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anemia (Majeed syndrome)Disease detail DIRA (Deficiency of the Interleukin 1 Receptor Antagonist)Disease detail ADAM17 deletionDisease detail Blau syndromeDisease detail Pyogenic sterile arthritis, pyoderma gangrenosum, acne (PAPA) syndromeDisease detail TNF receptor-associated periodic syndrome (TRAPS)Disease 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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