article · BMJ Case Reports
Intestinal atresia is one of the causes of bowel obstruction in the neonatal period. Hereditary multiple intestinal atresia (HMIA) is a rare form of intestinal atresia due to autosomal recessive inherited disease affecting the tetratricopeptide repeat domain-7A gene. This condition has been associated with primary immunodeficiency. Here, we report an infant who was diagnosed with HMIA and found to have secondary immune deficiency due to protein-losing enteropathy.
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DOI: 10.1136/bcr-2024-262190
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