BMJ Case Rep. 2025 May 5;18(5):e262190. doi: 10.1136/bcr-2024-262190.
ABSTRACT
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.
PMID:40324929 | DOI:10.1136/bcr-2024-262190
