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

HA20 – A20 haploinsufficiency

NLRP12-associated autoinflammatory disorder 

DIRA – Deficiency of Interleukin One Receptor Antagonist

DITRA – Deficiency of interleukin-36 receptor antagonist

DADA2 – Deficiency of Adenosine Deaminase 2

Majeed Syndrome

PAPA – Pyogenic arthritis, pyoderma gangrenosum, and acne

Blau Syndrome

Yao Syndrome


SAVI – STING-associated vasculopathy with onset in infancy

PAAND – Pyrin associated autoinflammation with neutrophilic dermatosis

Multifactorial Autoinflammatory Diseases:

PFAPA Syndrome

Behçet’s Disease

Crohn’s Disease

Systemic juvenile idiopathic arthritis (sJIA) or Still's disease

Adult-onset Still's disease (AOSD)

Schnitzler Syndrome

Sweet’s Syndrome

CRIA Syndrome

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)