CeRéMAIA
French Reference Center for rare Auto-Inflammatory Diseases and Amyloidosis
     
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Managed diseases

Diagnostic and therapeutic management of patients
presenting an autoinflammatory disease:

Hereditary autoinflammatory diseases (non-exhaustive list):

  • Familial Mediterranean Fever (FMF): ORPHA 342
  • Cryopyrin-associated periodic syndrome (CAPS): ORPHA 208650/575/1451/47045
  • NLRP12-associated hereditary periodic fever syndrome (NAPS12): ORPHA 247868
  • Tumor necrosis factor receptor 1 associated periodic syndrome (TRAPS): ORPHA 32960
  • Tumor necrosis factor receptor 11a associated periodic syndrome (TRAPS11): ORPHA 120160
  • Mevalonate Kinase Deficiency (MKD): ORPHA 343
  • Deficiency of IL-36R antagonist (DITRA): ORPHA 404546/ 247353/163927
  • Interleukin-1 receptor antagonist deficiency (DIRA): ORPHA 210115
  • PAPA syndrome: ORPHA 324942/69126
  • CANDLE Syndrome: ORPHA 324977/2615/324999/325004
  • SAVI syndrome: ORPHA 425120
  • IL10RA and IL10RB deficiency: ORPHA 238569
  • PRP/PSORS2 : ORPHA 2897
  • Blau syndrome: ORPHA 90340/324950/251304
  • NLRC4 deficiency: ORPHA 436166/47045
  • Majeed syndrome: ORPHA 77297
  • Behçet-like disease due to haploinsufficiency of A20 (HA20): ORPHA 476102

 

Multifactorial auto-inflammatory diseases:

  • Marshall syndrome (PFAPA): ORPHA 42642
  • Behçet disease: ORPHA 117
  • Systemic-onset juvenile idiopathic arthritis(Still disease): ORPHA 85414
  • Non-syndromic multifocal recurrent osteomyelitis, SAPHO syndrome: ORPHA 324950/210115/793
  • Sarcoidosis : ORPHA 797
  • Idiopathic recurrent pericarditis: ORPHA 251307

 

Unexplained auto-inflammatory diseases:

  • Unexplained periodic fever syndrome: ORPHA 102237
  • Unexplained periodic fever syndrome of childhood: ORPHA 324960
  • Castleman disease: ORPHA 160
  • Cogan Syndrome: ORPHA 1467
  • Relapsing polychondritis: ORPHA 728
  • Unexplained long-lasting fever/inflammatory syndrome: ORPHA 251332

 

Auto-inflammatory / autoimmune diseases with immune deficiency:

 

Systemic autoimmune diseases:

  • Juvenile idiopathic arthritis, all subtypes: ORPHA 85435/247861/85410/85436/85438
  • Pediatric systemic lupus erythematosus and mixed connective tissue disease: ORPHA 93552/809
  • Pediatric systemic sclerosis: ORPHA 93567
  • Juvenile dermatomyositis: ORPHA 93672
  • Non-infectious Uveitis: ORPHA 98715

 

Vasculitis

  • Kawasaki disease: ORPHA 2331
  • Henoch-Schönlein purpura: ORPHA 761
  • Takayasu arteritis: ORPHA 3287
  • Pediatric polyarteritis nodosa/Granulomatosis with polyangiitis: ORPHA 93564/900
  • Predominantly large-vessel vasculitis: ORPHA 156140

 

Inflammatory amyloidosis

  • AA amyloidosis: ORPHA 85445

 

 

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