There are a growing number of autoinflammatory diseases, and many have been discovered, or classified in the past few decades. However, patients have likely been suffering with these diseases for centuries. In the past, many of these diseases were referred to as Hereditary Periodic Fever Syndromes.This is a basic overview of these diseases.

In most cases, autoinflammatory diseases are caused by genetic mutations (or misspellings) in molecules that are involved in regulating the innate immune response–a “hard wired” defense system in our bodies that evolved to quickly recognize and act against infectious agents, or other danger signals produced by our bodies.

The genetic mutation is either inherited, or spontaneously created, and most autoinflammatory diseases cause lifelong symptoms, in many cases from infancy or early childhood. There are some autoinflammatory diseases that develop later in life. Most of these diseases can cause a variety of systemic symptoms from inflammation in the body.

It is important not to confuse autoinflammatory syndromes with the more common, and well-known but different diseases called autoimmune diseases, such as: Systemic lupus erythematosus (SLE or lupus), rheumatoid arthritis (RA), most forms of juvenile arthritis (except SJIA) or many others that are caused by the body’s adaptive immune system developing antibodies to antigens that then attack healthy body tissues.

We will try to feature information and medical research for many of these diseases in this area, but feel free to also go to our website to learn about a number of these diseases. In addition, our comparative chart has a lot of specific information, symptoms and lab findings on it, but it is written more for a medical audience.

Content for this page in regards to the innate immune system, and autoinflammatory diseases in general is based on information from our medical guidebook on CAPS, written by leading experts on these diseases.

The primary symptom shared by many of these diseases is the frequent recurrent fever, but many also have distinctive rashes, and a cluster of symptoms that accompany the fevers, that are often referred to as “flares” or “attacks.”

These diseases include:

• Cryopyrin Associated Periodic Syndromes (CAPS) which includes: Familial Cold Autoinflammatory Syndrome (FCAS), Muckle-Wells (MWS), and Neonatal-Onset Multisystem Inflammatory Disease (NOMID/CINCA)
• Mevalonate Kinase Deficiency (MKD) – aka Hyperimmunoglobulinemia D (HIDS) and Mevalonate Aciduria (MA)
• Familial Mediterranean Fever (FMF)
• TNF-receptor-associated Periodic Fever Syndrome (TRAPS)
• Deficiency of Interleukin-1 Receptor Antagonist (DIRA)
• Periodic fever, Aphthous-stomatitis, Pharyngitis, Adenitis Syndrome (PFAPA)
• Schnitzler Syndrome
• Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature Syndrome (CANDLE Syndrome) aka Proteasome-associated Autoinflammatory Syndromes (PRAAS) or Nakajo-Nishimura Syndrome
• Pyogenic Arthritis Pyoderma Gangrenosum and Acne Syndrome (PAPA)
• Blau Syndrome (NOD2), also known as Pediatric Granulomatous Arthritis (PGA)
• Chronic Recurrent Multifocal Osteomyelitis (CRMO or SAPHO)
• Majeed Syndrome
• Familial Psoriasis (PSORS2/CAMPS)
• Deficiency of Il36 Receptor Antagonist (DITRA)
• NLRP12 Associated Periodic Fever Syndrome (FCAS2)
• Behçet’s Disease
• Adult Onset Stills (AOSD)
• Systemic Juvenile Idiopathic Arthritis (SJIA)
• Primary HLH- aka Familial Hemophagocytic Lymphohistiocytosis
• PLCG2-associated Antibody Deficiency and Immune Dysregulation Syndrome (PLAID ) Aka Familial Atypical Cold Urticaria (FCAS3) due to PLCG2 Deletions
• Autoinflammation and PLCG2-associated Antibody Deficiency & Immune Dysregulation Syndrome (APLAID)
• SLC29A3 Spectrum Disorder–aka H. Syndrome; Pigmented Hypertrichosis w/IDDM; Faisalabad Histiocytosis & Sinus Histiocytosis w/Massive Lymphadenopathy)
• Deficiency of Adenosine Deaminase 2 (DADA2)–aka Fever w/ Early Onset Stroke (FEOS)
• NLRC4-MAS: NLRC4-associated autoinflammatory disease with recurrent fevers and MAS-like symptoms
• Sweet’s Syndrome
• Plus Unclassified, Undifferentiated, or still being discovered autoinflammatory diseases