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
- Others (NOCARH, PFIT, CRIA, SIFD, SPENCD)
Other polygenic / acquired conditions
- Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis (CNO)/CRMO)
- Synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome (SAPHO)
- Behçet’s Disease
- Systemic juvenile idiopathic arthritis (SJIA) and Macrophage Activation Syndrome (MAS)/Dr. Lauren Henderson; Dr. Melissa Hazen (https://www.childrenshospital.org/research/departments/rheumatology-research/research-action/macrophage-activation-syndrome)