Abstract
Primary immunodeficiencies are a group of at least 200 disorders; gastrointestinal (GI) diseases affect about 5–50% of patients with primary immunodeficiencies and are often the initial presenting manifestation. These manifestations, showing the same clinical features, could mimic other diseases such as celiac disease, food allergy, or inflammatory bowel diseases (IBD), but they are often unresponsive to conventional therapies. Diagnostic algorithm in child with recurrent GI symptoms needs for a stage approach, in order to rule out differential diagnosis, to perform screening immunological tests, and to refer an immunologist when an immunodeficiency is suspected. In pediatric patients, GI manifestations of primary immunodeficiencies are mainly induced by infection, inflammation, or autoimmunity, and severe malnutrition can occur in 50–60% of these patients. In adult patients, malignancy could be a frequent additional condition.
Due to the high incidence of GI disease in these patients, early evaluation of the GI tract is useful for children with certain or suspect immunodeficiency, to prevent potentially irreversible tissue damage.
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Di Meglio, L., Carucci, L., Berni Canani, R. (2022). Immunodeficiency Disorders Resulting in Malabsorption. In: Guandalini, S., Dhawan, A. (eds) Textbook of Pediatric Gastroenterology, Hepatology and Nutrition. Springer, Cham. https://doi.org/10.1007/978-3-030-80068-0_38
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DOI: https://doi.org/10.1007/978-3-030-80068-0_38
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