Target:
Periodic fever syndromes encompass autoinflammatory disorders (AID) related to innate immunity. These disorders manifest as recurrent fevers and widespread inflammation, with no involvement of T or B cells or autoantibodies. Many AID have a complex genetic basis, but this complexity has only been partially elucidated for familial Mediterranean fever and similar conditions with classical monogenic origins. While numerous gene panels exist for AID diagnosis, yielding 15-25% diagnostic success depending on clinical criteria, the remaining 75-85% may result from elusive causative genes, possibly recessive or dominant variants in unknown genes, or the cumulative effect of variants in multiple genes. This study analyzed five familial AID cases with autosomal dominant transmission through exome sequencing, identifying potential causal variants in FCRL6, PKN1, STAB1, PTDGR, and VCAM1. Further research with larger cohorts is necessary to confirm the pathogenic roles of these genes in complex AID pathogenesis.
DOI: 10.3390/genes14071310