Autoinflammatory Diseases Clinic
Established in 2014, the Autoinflammatory Diseases Clinic at Boston Children’s Hospital is one of the few clinics in the country specializing in evaluating and treating patients with recurrent fevers (also known as periodic fever syndromes), as well as the growing number of autoinflammatory diseases. The clinic is led by Drs. Fatma Dedeoglu and Jonathan S. Hausmann.
Autoinflammatory diseases are a rare group of diseases that cause spontaneous inflammation, often with recurrent, stereotypical episodes of fevers. Common symptoms during fever flares include sore throat, rashes, joint pain, abdominal pain, and headaches, and there is often evidence of significant inflammation in the blood.
During these episodes, children are often misdiagnosed with viral illnesses. However, unlike infections, children with autoinflammatory diseases continue to have frequent episodes of fever and inflammation that all look the same, last for similar lengths of time, and sometimes recur in a predictable pattern. Some autoinflammatory diseases may cause persistent symptoms.
Autoinflammatory diseases are not contagious, and when children become ill, nobody else is ill at home. Many autoinflammatory diseases are genetic (inherited); they start in childhood and persist for a lifetime. Others may last for a few years before resolving on their own.
Our clinic provides comprehensive, compassionate care for children with known or suspected autoinflammatory diseases. We perform a thorough workup, which often includes bloodwork, urine tests, and genetic testing, as necessary. We actively collaborate with our colleagues in hematology, infectious diseases, neurology, dermatology, gastroenterology, otolaryngology, and primary care providers to make the diagnosis, exclude other conditions, and manage any comorbidities.
As many of these diseases run in families, we also work with the Autoinflammatory Disease Center at Beth Israel Deaconess Medical Center to evaluate and treat adults with similar conditions.
Our clinic is involved in conducting clinical research studies and enroll children in international registries of autoinflammatory diseases. Drs. Dedeoglu and Hausmann contribute to global efforts to help identify and treat patients with autoinflammatory conditions. They also lead educational workshops for patients, their families, and are dedicated to informing other medical professionals on identifying and treating these rare disorders.
Some of the conditions that we treat include:
- recurrent fevers of unknown cause
- periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA)
- Familial Mediterranean Fever (FMF)
- chronic recurrent multifocal osteomyelitis (CRMO, also known as chronic noninfectious osteomyelitis, CNO)
- systemic juvenile idiopathic arthritis (SJIA) and adult-onset Still’s disease (AOSD)
- Behcet’s disease and monogenic Behcet’s mimics such as HA20, RELA haploinsufficiency
- macrophage activation syndrome (MAS)
- cryopyrin-associated periodic syndromes (CAPS), also known as NLRP3-associated autoinflammatory diseases (NLRP3-AIDs):
- familial cold autoinflammatory syndrome (FCAS), also known as familial cold urticaria
- Muckle-Wells syndrome (MWS)
- neonatal onset multisystem inflammatory disease (NOMID), also known as CINCA
- DADA2 (Deficiency of ADA2)
- TNF receptor associated periodic syndrome (TRAPS)
- mevalonate kinase deficiency (MKD, also known as Hyper-IgD syndrome, HIDS)
- familial cold autoinflammatory syndrome 2 (FCAS2)
- deficiency of the interleukin-1-receptor antagonist (DIRA)
- deficiency of the interleukin-36-receptor antagonist (DITRA)
- Blau syndrome
- pyogenic sterile arthritis, pyoderma gangrenosum, acne (PAPA)
- synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome (SAPHO)
- Majeed syndrome
- APLAID/PLAID (FCAS3-PLCG2 associated disease)
- NLRC4-MAS (FCAS4)
- chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (also known as Joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP) or Nakajo-Nishimura syndrome)
- sting-associated vasculopathy with onset in Infancy (SAVI)
- pyrin-associated autoinflammation with Neutrophilic Dermatosis (PAAND)
- SIFD (sideroblastic anemia with immunodeficiency, fevers, and developmental delay)
- cleavage-resistant RIPK1-induced autoinflammatory syndrome (CRIA)