Autoinflammatory diseases with recurrent fever [20 genes]

This panel addresses autoinflammatory diseases characterized by febrile episodes of non-infectious origin as a usual manifestation. They include entities such as familial Mediterranean fever, familial cold urticaria, familial periodic fever, or Majeed syndrome, among others. The genes included in this panel constitute important modulators of innate immunity, intervening in various processes such as the production of inflammasomes, apoptosis , TNF or NF-kappaB-mediated signaling pathways.

• 1/5,000-10,000 (FMF)
• 1/1,000,000 (Majeed syndrome)
• 1/1,000 (TRAPS)
• <1/1,000,000 (FCAS)

• Diagnosis and genetic counseling
• Anti-inflammatories
• Monoclonal antibodies
• Antifungals (colchicine)

The identification of genetic variants causing autoinflammatory disease with recurrent fevers is useful to make an accurate diagnosis and provide genetic counseling since both dominant and recessive forms have been described. On the other hand, genetic study helps direct treatment options.

If autoinflammatory syndrome with recurrent fevers is suspected, the genetic study would be indicated.

Some of the clinical manifestations to take into account could be:

• Recurrent fever
• Arthralgia
• Skin lesions (rash)
• Kidney disease