Whole Exome Sequencing of Familial and Pediatric Forms of Vasculitis

Identification of Susceptibility Loci and Genes for Systemic Vasculitis Risk, by Analyzing Whole Exome Sequencing of Familial and Pediatric Forms of Vasculitis (FAMILYVASC Study)

The FAMILYVASC study is a prospective observational study which will aim to identify susceptibility loci and genes for systemic vasculitis risk in patients with familial or pediatric forms of vasculitis. Genetic analysis based on whole exome sequencing will be carried out through salivary DNA.

Inclusion criteria for subjects with vasculitis

• Children and adults
• Patients with vasculitis, as defined in the Chapel Hill International Classification in its revised version of 2012
• Patient information and signed informed consent
• Pregnant and breastfeeding women can be included in the study

Inclusion criteria for healthy subjects

• Children and adults
• Do not have vasculitis, as defined in the Chapel Hill International Classification in its revised version of 2012, or relatives on the 1st; 2nd; 3rd or 4th degree of a patient with vasculitis
• Patient information and signed informed consent
• Pregnant and breastfeeding women can be included in the study

Exclusion criteria:

• Refusal of consent or inability to obtain consent
• Dementia or unauthorized patient, for psychiatric or intellectual failure reasons, to receive information about the protocol and to give informed consent.
• Uncooperative patient, or any pathology that could make the patient potentially non-compliant to the study procedures, and patients interned for regulatory or legal reasons.