Gastrointestinal symptoms may indicate primary immunodeficiency disease

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Gastrointestinal symptoms should be recognized as potential early indicators of primary immunodeficiency disease (PID) in children, according to a study that urges pediatric gastroenterologists to be vigilant in considering PID when encountering patients with chronic diarrhea, colitis, or liver problems.

The study, which included 24 patients with PID, found that the gastrointestinal system was the most affected organ in those with the condition, followed closely by the lungs. The most common clinical symptoms were chronic diarrhea, colitis, acute hepatitis, and acute liver failure.

The study found that a significant number of patients with PID experienced additional complications. Approximately 20.8% of patients had an association with autoimmune diseases, while 8.3% showed development of malignant diseases. Additionally, 16.6% of patients suffered from severe progression of viral diseases, highlighting the importance of recognizing PID in these cases.

The specific types of PID diagnosed in the study population were diverse. Antibody deficiency was found in 29.2% of patients, combined immunodeficiency in 20.8%, immune dysregulation in 12.5%, defects in intrinsic and innate immunity in 4.2%, autoinflammatory disorders in 8.3%, and congenital defects of phagocytes in 4.2%. Overall, 5 patients remained unclassified, signifying the complexity of diagnosing some cases of PID.

Cakir M, Yakici N, Sag E, et al. Primary Immunodeficiencies in Children Initially Admitted with Gastrointestinal/Liver Manifestations. Pediatr Gastroenterol Hepatol Nutr. 2023;26(4):201-212. doi: 10.5223/pghn.2023.26.4.201. Epub 2023 Jul 5. PMID: 37485029; PMCID: PMC10356973.