case_images: PMC11746893_01
case_images: (A) Immunological features in patient 1 and patient 2 (B) STAT1 phosphorylation 1.) patient 1: elevated STAT1 phosphorylation after stimulation with IFN alpha and 2.) elevated STAT1 phosphorylation after 60 min of stimulation with IFN gamma 3.) patient 2: no elevated STAT1 phosphorylation after stimulation with IFN alpha and 4.) IFN gamma (C) 1.) interferon signature of patient 1 before start of ruxolitinib [slightly elevated, score 27,61 (<12,49)] 2.) interferon signature of patient 1 after 7 months of ruxolitinib treatment [strongly elevated, score 871,95 (<12,49)]. (D-G) Patient 2 (D) unspecific colitis with fibrin coated erosions in the rectum (E) Appendix at the age of 5 years showing irregular and progressively transformed germinal centers (BCL6 immunohistochemistry with DAB-based brown coloration, altered germinal center marked by asterisk) (F) Duodenum at the age of 8 years showing slightly elevated plasma cell densities in the lamina propria (asterisk), and slightly hyperplastic crypts (arrowhead) as signs of a minor, non-specific chronic inflammation. No villous atrophy and no intraepithelial lymphocytosis. (G) Rectum at the age of 8 years showing slightly hyperplastic mucosa on the right side, necrotic debris with neutrophils and macrophages on the left (pseudomembrane, arrowhead). Magnifications were as follows: (E) 1.4x, bar 2 mm; (F/G) 40x, bar 50 microm. Histological sections were digitized with the Aperio slide scanner (Leica, Nussloch, Germany), with an original magnification of 40x and an original resolution 0.253 microm per pixel. (H/I)Patient 2: Focal T2w signal alterations (arrowheads) in the distal third of the right femur (H), and in the ischium on the left (I) indicating lesions suggestive of CRMO.
case_images: fped-12-1516017-g001.jpg
case_images: PMC11746893_02_fped-12-1516017-g001.jpg
case_images: F1
case_images: Oesophagogastroscopy and ileocolonoscopy in our patient showed unspecific colitis with fibrin coated erosions in the rectum, as well as distal gastritis with small, aphthous ulcers in the antrum and signs of proximal duodenitis (Figure 1). However, germinal centers were ill-defined throughout all biopsies. (Figure 1) Colchicine was initiated and led to complete resolution of oral aphthae. Further investigations revealed elevated IgE levels and low memory B cells (Figure 1), prompting whole exome sequencing.
case_images: PMC11746893_02
case_images: (A) Immunological features in patient 1 and patient 2 (B) STAT1 phosphorylation 1.) patient 1: elevated STAT1 phosphorylation after stimulation with IFN alpha and 2.) elevated STAT1 phosphorylation after 60 min of stimulation with IFN gamma 3.) patient 2: no elevated STAT1 phosphorylation after stimulation with IFN alpha and 4.) IFN gamma (C) 1.) interferon signature of patient 1 before start of ruxolitinib [slightly elevated, score 27,61 (<12,49)] 2.) interferon signature of patient 1 after 7 months of ruxolitinib treatment [strongly elevated, score 871,95 (<12,49)]. (D-G) Patient 2 (D) unspecific colitis with fibrin coated erosions in the rectum (E) Appendix at the age of 5 years showing irregular and progressively transformed germinal centers (BCL6 immunohistochemistry with DAB-based brown coloration, altered germinal center marked by asterisk) (F) Duodenum at the age of 8 years showing slightly elevated plasma cell densities in the lamina propria (asterisk), and slightly hyperplastic crypts (arrowhead) as signs of a minor, non-specific chronic inflammation. No villous atrophy and no intraepithelial lymphocytosis. (G) Rectum at the age of 8 years showing slightly hyperplastic mucosa on the right side, necrotic debris with neutrophils and macrophages on the left (pseudomembrane, arrowhead). Magnifications were as follows: (E) 1.4x, bar 2 mm; (F/G) 40x, bar 50 microm. Histological sections were digitized with the Aperio slide scanner (Leica, Nussloch, Germany), with an original magnification of 40x and an original resolution 0.253 microm per pixel. (H/I)Patient 2: Focal T2w signal alterations (arrowheads) in the distal third of the right femur (H), and in the ischium on the left (I) indicating lesions suggestive of CRMO.
case_images: fped-12-1516017-g001.jpg
case_images: PMC11746893_02_fped-12-1516017-g001.jpg
case_images: F1
case_images: Oesophagogastroscopy and ileocolonoscopy in our patient showed unspecific colitis with fibrin coated erosions in the rectum, as well as distal gastritis with small, aphthous ulcers in the antrum and signs of proximal duodenitis (Figure 1). However, germinal centers were ill-defined throughout all biopsies. (Figure 1) Colchicine was initiated and led to complete resolution of oral aphthae. Further investigations revealed elevated IgE levels and low memory B cells (Figure 1), prompting whole exome sequencing.