(A) HE and periodic acid–Schiff staining of colonic biopsy
samples from an inflammatory bowel disease (IBD) control (Paneth cell metaplasia), a
patient with the NOX1 D360N variant, and a patient with the
DUOX2 R1211C variant. The patient with the NOX1 D360N
variant shows focal inflammation, increased cellularity of inflammatory cells adjacent to
normal area. The patient with the DUOX2 R1211C variant shows severe
colitis with architectural distortion (crypt damage). Scale bar: 20
μm. (B) Immunofluorescence analysis with
Paneth cell markers lysozyme and CD24 in colonic biopsy samples: lysozyme and EpCAM
(red), β-catenin and CD24
(green), and nuclei (blue). Lysozyme was expressed in
the crypts of the patients as well as the IBD control, but not in the healthy control.
CD24 is expressed in colonic crypts in the IBD control and the patient with the
DUOX R1211C variant, but neither in the healthy control nor the patient
with the NOX1 variant. Scale bar: 10 μm.