Current Environment:

The clinic attracts patients with known or suspected diseases of autoinflammation and immune dysregulation. We have expertise in diagnosing and treating the following conditions:

Periodic fever syndromes and diseases of inflammasomes:

  • Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) 
  • Familial Mediterranean Fever (FMF)-Pyrin Inflammasome
  • Pyrin associated Autoinflammation and Neutrophilic Dermatosis (PAAND) 
  • Mevalonate Kinase Deficiency/Hyperimmunoglobulin-D syndrome (MKD/HIDS)- Pyrin Inflammasome 
  • Cryopyrin-associated periodic syndromes (CAPS) -NLRP3 inflammasome:
    • Familial cold autoinflammatory syndrome (FCAS1)
    • Muckle-Wells syndrome
    • Neonatal onset multisystem inflammatory disease (NOMID, also known as CINCA)
  • Deficiency of the interleukin-1-receptor antagonist (DIRA)
  • Deficiency of the interleukin-36-receptor antagonist (DITRA)
  • TNF receptor associated periodic syndrome (TRAPS) 
  • FCAS2 (NLRP12)
  • FCAS3 (PLCG2)
  • FCAS4 (NLRC4)

Diseases of dysregulated interferon production:

  • Sting Associated Vasculopathy with onset in Infancy (SAVI)
  • Coatomer protein subunit alpha (COPA) Syndrome
  • Aicardi-Goutières syndrome (AGS)
  • DNAse II deficiency
  • Proteosome Associated Autoinflammatory Syndromes (PRAASs-PRAAS1/CANDLE-NKJO-JMP; PRAAS2, PRAAS3, PRAAS4) 

Diseases of dysregulated NFxB activation

  • Haploinsufficency of A20 (HA20)
  • Haploinsuffucency of RELA 
  • OTULIN-related Autoinflammatory Syndrome (ORAS)
  • LUBAC Deficiency
  • RIPK1 Deficiency
  • NEMO deleted exon5-autoinflammatory syndrome (NEMO-NDAS)

Other monogenic conditions:

  • Blau syndrome (NOD2) 
  • Pyogenic sterile arthritis, Pyoderma gangrenosum, Acne (PAPA) 
  • Majeed syndrome
  • Deficiency of ADA2 (DADA2)/Dr. Pui Lee

Other polygenic / acquired conditions