ISSAID ISSAID
The registry of
Auto-Inflammatory Disease mutations
What are auto-inflammatory diseases?

Autoinflammatory diseases are defined as illnesses caused by primary dysfunction of the innate immune system. This new concept includes a broad number of diseases, initially focusing on Hereditary recurrent fevers such as the prototype FMF, Familial Mediterranean Fever.

Until recently, these conditions were defined only by phenotypic features, including recurrent attacks of fever, abdominal pain, arthritis or cutaneous signs, which sometimes overlap and may obscure accurate diagnosis. However, this disease classification has expanded due to the recent advances in our understanding of disease pathogenesis with the discovery of the molecular basis of these disorders. Additional disorders which are now regarded as autoinflammatory diseases include hereditary disorders such as Blau disease and complex disorders such as Crohn's or Behcet's disease.

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FMF: The Prototype disease

 

List of monogenic autoinflammatory diseases

 

Recent reviews