Hereditary periodic fever syndromes are auto-inflammatory diseases (AID)
characterized by episodic phases of inflammation substantially involving elements of
the innate immune system. In some disorders diagnosis can be made by genetic
testing but patients would benefit from cost-effective biomarkers as diagnostic
screening tool as well as from surrogate markers for disease monitoring and
outcome prediction. Furthermore, very relevant disorders such as Systemic Juvenile
Idiopathic Arthritis (SJIA), periodic fever aphtous stomatitis pharyngitis and adenitis
(PFAPA), and nonbacterial Osteitis (NBO) are AID without known genetic
background. This Biomaterial Bank (BMB) will collect serum and DNA from AID
patients for the evaluation of biomarkers and novel biological signatures. In a
translational approach this biomaterial will be used in several research projects of
this network, and vice versa new biomarkers evolving from the research projects will
be tested in SP7. Using the patient material in our BMB we will characterize
biomarker signatures, genetic variations and cellular aberrations that are relevant for
genotype/phenotype correlations in AID.
Following the network approach of AID-Net, our focus will be on immune regulation
networks with a specific focus on innate immune hyperactivation and aberrant
alternative secretory pathways. Our overall aim is to add to the knowledge on
autoinflammatory mechanisms but also to provide tools for diagnosis, monitoring and clinical care for patients with AID.