ICD-11

Monogenic hereditary autoinflammatory diseases characterised by apparently unprovoked generalised inflammation in the absence of infection or high titre autoantibodies.

Autoinflammatory diseases are characterized by apparently unprovoked generalized inflammation in the absence of infection or high titre autoantibodies [39]. The better defined diseases within this group are monogenic disorders, especially the hereditary periodic fever syndromes. These genetic diseases have provided insight in innate immune mechanisms and in the pathogenesis of autoinflammatory diseases in general. The common pathophysiologic feature for many of these disorders appears to be excessive interleukin- (IL-)1 signaling

CAPS is an autoinflammatory disease associated with gain of function changes in the cryopyrin protein, resulting in inflammasome activation and enhanced IL1 beta production. This results in clinical signs and symptoms of inflammation in the form of rash, fever, joint and eye symptoms with increased acute phase reactants.

CAPS is a “disease” with clear symptomatology, clear linkage to a gene as etiology, with a defined course and treatment. CAPS is a autosomal dominantly inherited autoinflammatory disease associated with heterozygous mutations in a gene called NLRP3 (Nucleotide binding site Leucine rich Repeat Pyrin 3) which codes for the cyropyrin protein [ ], leading to excess interleukin 1beta (IL-1beta) production [ ].