Gastrointestinal Manifestations in Children with Immunodeficiency Referred to a Tertiary Hospital

Background: The gastrointestinal (GI) tract can be affected by immunodeficiency disorders. This study aimed to evaluate GI manifestations in children with immunodeficiency. Methods: This cross-sectional study retrospectively evaluated immunodeficient children. Demographics, immunodeficiency disorders, clinical signs and symptoms, upper endoscopy and colonoscopy findings, histopathologic and imaging findings, and laboratory test results were extracted from the patients' medical records. Participants were selected from medical records at Mofid Children's Hospital, Tehran, Iran, from 2011 to 2022, a tertiary care hospital for pediatrics with immunodeficiency disorders. Results: Of the 43 children with immunodeficiency evaluated in this study (mean age: 3.89 ± 4.32 years), 25 (58.1%) were male, and 18 (41.8%) were female. The most common immunodeficiency disorder was combined immunodeficiency (CID) in 11 patients (25.6%), followed by severe combined immunodeficiency (SCID) in 6 (14%). The most frequent clinical manifestations were diarrhea in 24 patients (55.8%) and vomiting in 21 (48.8%). Erythema of the esophagus (3/14), stomach (5/14), and duodenum (3/14) was the most common finding of upper endoscopy. Nodularity of the colon (4/11) and erythema of the rectum (4/11) were the most frequently observed findings in colonoscopy. The most frequently observed histopathologic findings were chronic esophagitis, chronic gastritis, chronic inflammation in the duodenum, and increased/enlarged lymphoid follicles in the colon and rectum. Abdominal computed tomography (CT) and ultrasound (US) revealed splenomegaly and hepatomegaly as the most frequent findings (4.6% and 20.9%, respectively). Conclusions: The GI manifestations were common in children with immunodeficiency, with diarrhea and vomiting as the predominant symptoms.