Figure 1. Clinical Features and Pedigrees of Patients with TRIM22 Variants.
A, B) Clinical presentation and histopathologic findings in colonic biopsy from Patient 1.
Panel A shows severe perianal fistulization with seton placement. Recto-vaginal fistulae were also present. Panel B shows non-caseating granulomas on a background of chronic inflammatory cell infiltrates (H&E stain).
C, D) Clinical presentation and histopathologic findings in colonic biopsy from Patient 2.
Panel C shows multiple, severe cavitating perianal fistulae. Panel D shows a colonic biopsy showing chronic inflammation with non-caseating granuloma (black arrow) (H&E stain, scale bar represents 75 μm).
E) Pedigree analysis of the genetic inheritance pattern for each family trio.
F) Schematic view of the protein domain architecture of TRIM22 with the relative position of each identified variant depicted.
Number indicates amino acid position.