Investigations into the aetiopathogenesis of orofacial granulomatosis using multiple omics technologies reveals a potential role for B cells

WES identified deleterious variants in the SRGAP2 and AK2 genes are associated with OFG. Salivary inflammatory proteome analysis revealed increased expression of proteins involved in adaptive immune responses and calprotectin. Microbiome analysis revealed a reduced microbial diversity and decreased compositional similarity in OFG.

In OFG, the presence of concurrent CD had no impact on any findings.The immunopathogenesis of OFG (irrespective of concurrent CD) was characterised by the upregulated expression of genes and proteins involved B cell responses. In addition, mutations in genes which play a role in B cell function, such as AK2, may predispose participants to OFG. There is evidence of dysbiosis of the oral microbiome in participants with OFG.

Although the exact aetiological cause of OFG remains elusive, the evidence suggests that OFG is a B cell driven disease and biological therapies such as Rituximab may be repurposed to manage the condition.