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ERN-RITA

ERN-RITA

European Reference Network for Immunodeficiency, Autoinflammatory, Autimmune and Pediatric Rheumatic diseases Diseases

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  • About
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  • Rare diseases
  • Autoinflammatory disorders (AID)
  • Defects affecting the inflammasome
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)
    • T−B− SCID DNA recombination defects
    • Combined immunodeficiencies generally less profound than severe combined immunodeficiency
    • Congenital thrombocytopenia
    • DNA repair defects (other than those in group 1)
    • Thymic defects with additional congenital anomalies
    • Immune-osseous dysplasias
    • Hyper-IgE syndromes (HIES)
    • Dyskeratosis congenita (DKC) with bone marrow failure and dysfunctional telomere maintenance
    • Defects of Vitamin B12 and Folate metabolism
    • Anhidrotic ectodermaldysplasia with immunodeficiency (EDA-ID)
    • Calcium channel defects
    • Other defects
    • Severe reduction in all serum immunoglobulin isotypes with profoundly decreased or absent B cells
    • Severe reduction in at least 2 serum immunoglobulin isotypes with normal or low number of B cells
    • Severe reduction in serum IgG and IgA with normal/elevated IgM and normal numbers of B cells
    • Isotype or light chain deficiencies with generally normal numbers of B cells
    • Familial hemophagocytic lymphohistiocytosis (FHL) syndromes without hypopigmentation
    • Familial hemophagocytic lymphohistiocytosis (FHL) syndromes with hypopigmentation
    • T regulatory cells genetic defects
    • Autoimmunity with or without lymphoproliferation
    • Autoimmune lymphoproliferative syndrome (ALPS)
    • Immune dysregulation with colitis
    • Type 1 Interferonopathies
    • Congenital neutropenias
    • Defects of Motility
    • Defects of Respiratory Burst
    • Medelian Susceptibility to mycobacterial disease (MSMD)
    • Epidermodysplasia verruciformis
    • Predisposition to severe viral infection
    • Herpes simplex encephalitis (HSE)
    • Predisposition to invasive fungal diseases
    • Chronic mucocutaneous candidiasis (CMC)
    • TLR signaling pathway deficiency

Defects affecting the inflammasome

Disease information Hide
LinksFor clinicians and scientistsFor patients
Patient organisations Show
LinksFMF & AID Global Association (Intl. umbrella organization)Rare Autoinflammatory Conditions Community - UK (RACC-UK) Simba Associazione Italiana Sindrome e Malattia di BehcetAssociazione Italiana Febbri Periodiche (AIFP)Associazione per le Malattie Reumatiche Infantili APS (AMRI)Fiebre Mediterránea Familiar y Síndromes Autoinflamatorios de España (FMF España)AADAG Georgia

Diseases

APLAID (autoinflammation and PLCγ2 associated antibody deficiency and immune dysregulation)Disease detail Cryopyrin-associated periodic syndromes (CAPS) E85.0Disease detail NLRC4-MAS (macrophage activating syndrome) Familial cold autoinflammatory syndrome 4Disease detail Neonatal onset multisystem inflammatory disease (NOMID) or chronic infantile neurologic cutaneous and articular syndrome (CINCA)Disease detail Familial cold autoinflammatory syndrome 1Disease detail Familial cold autoinflammatory syndrome 2Disease detail Muckle-Wells syndromeDisease detail Mevalonate kinase deficiency (Hyper IgD syndrome)Disease detail Familial Mediterranean FeverDisease detail
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Scientific societies & stakeholders

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. 

© 2019 ERN RITA. All rights reserved. The RITA logo was created by Monica Pietsch.