Autoinflammatory Diseases
What are autoinflammatory diseases?
Autoinflammatory diseases are a group of rare diseases, most of them genetic. They are caused by an abnormal activation of the innate immune system, which is our body’s first line of defence against infection.
This abnormal activation causes recurrent episodes of fever, and if left untreated, the
inflammation can damage vital organs.
The inflammation can be extremely painful and therefore affecting the patient’s quality of life.
Autoinflammatory diseases are not well known and are difficult to diagnose and treat due to their complexity and rare nature.
If you have recurrent symptoms (i.e. fevers, abdominal pain, joint pain, rashes, headaches, mouth ulcers, etc), and no one seems to know what you have, please read the disease descriptions below.
Monogenic Autoinflammatory Diseases:
FMF – Familial Mediterranean Fever
TRAPS – Tumor Necrosis Factor Receptor Associated Periodic Syndrome
HIDS/MKD – Hyper-IgD syndrome / Mevalonate Kinase Deficiency
CAPS: FCAS, MWS, NOMID/CINCA – Cryopyrin-associated periodic syndromes
NLRP12-associated autoinflammatory disorder
DIRA – Deficiency of Interleukin One Receptor Antagonist
DITRA – Deficiency of interleukin-36 receptor antagonist
DADA2 – Deficiency of Adenosine Deaminase 2
PAPA – Pyogenic arthritis, pyoderma gangrenosum, and acne
SAVI – STING-associated vasculopathy with onset in infancy
PAAND – Pyrin associated autoinflammation with neutrophilic dermatosis
Multifactorial Autoinflammatory Diseases:
Crohn’s Disease
Systemic juvenile idiopathic arthritis (sJIA) or Still's disease
Adult-onset Still's disease (AOSD)
CRMO Syndrome – Chronic Recurrent Multifocal Osteomyelitis
SAPHO Syndrome – Synovitis Acne Pustulosis Hyperostosis Osteitis
Background information:
- Periodic Fever Syndromes (PFS)
- Undifferentiated autoinflammatory diseases (uSAID)
- Autoinflammatory vs. Autoimmune (AID vs. AI)