PMC9720107_01
Timeline of clinical events, diagnostics, and treatments of the patient. FOXP3, forkhead box protein 3; WES, whole-exome sequencing; HP, Helicobacter pylori; PPI, proton pump inhibitors; HSCT, hematopoietic stem cell transplantation.
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F1
Esophagogastroduodenoscopy (EGD) showing edema, erosion, multiple ulcers, and pyloric stenosis of the stomach at 7 (A) and 12 (C) years old. Upper gastrointestinal radiography showing gastric retention and pyloric stenosis at 7 (B) and 12 (D) years old.
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F2
Pyloric stricture and stiffness were observed, and the endoscope could not enter the duodenal bulb (Figure 2A). Upper gastrointestinal radiography revealed pyloric stenosis with a slow barium passage (Figure 2B). At the age of 12 years, upper gastrointestinal radiography showed gastric retention and severe pyloric stenosis (Figure 2C). The barium did not pass through the pylorus after 6 h (Figure 2D).
Representative histological images showing the infiltration of eosinophils, plasmocytes, and neutrophils in the upper gastrointestinal tract. (A) Gastric nonnecrotizing granulomas (arrow). (B) Small intestinal villi. (C) Gastric antrum (H&E, x200; scale: 50 microm).
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F3
At the age of 10 years, due to the appearance of a perianal abscess and gastric non-necrotizing granulomas with inflammatory cell infiltration (Figure 3A), the patient was diagnosed with Crohn's disease (CD). An EGD was placed through the surgical incision, and an intestinal biopsy showed normal intestinal villi without villous blunting or atrophy (Figure 3B). At the age of 14 years, an EGD revealed persistent erosive gastritis with gastric ulcers, and a biopsy of the antrum showed significant eosinophil infiltration (40-65 eosinophils/HPF) (Figure 3C).
Genotyping of the FOXP3 gene mutation c.748-750delAAG (p.Lys250del) in the family members using Sanger sequencing.
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F4
Genotyping of the unaffected family members by Sanger sequencing showed that his mother and third sister carry this mutation, and his father and two other sisters are normal (Figure 4).
PMC9720107_02
Timeline of clinical events, diagnostics, and treatments of the patient. FOXP3, forkhead box protein 3; WES, whole-exome sequencing; HP, Helicobacter pylori; PPI, proton pump inhibitors; HSCT, hematopoietic stem cell transplantation.
fped-10-1039341-g001.jpg
PMC9720107_02_fped-10-1039341-g001.jpg
F1