Background Polyarteritis nodosa is a systemic necrotizing vasculitis with a pathogenesis that
is poorly understood. We identified six families with multiple cases of systemic and
cutaneous polyarteritis nodosa, consistent with autosomal recessive inheritance. In most
cases, onset of the disease occurred during childhood. Methods We carried out exome
sequencing in persons from multiply affected families of Georgian Jewish or German
ancestry. We performed targeted sequencing in additional family members and in unrelated …

Polyarteritis nodosa (PAN) is a systemic necrotizing vasculitis that can affect numerous
tissues, including the kidney. Though PAN can occur in association with other diseases,
including hepatitis B and hematological malignancies, most cases are idiopathic. PAN most
commonly occurs sporadically in adults, but familial clusters of PAN have been reported,
and it can occur in children. Navon Elkan and colleagues studied patients of Georgian
Jewish, German, and Turkish ancestry, most of whom had familial PAN that became active …