Congenital intestinal atresias with multiple episodes of sepsis: A case report and review of literature

Introduction: Hereditary multiple intestinal atresia associated with severe combined immunodeficiency (MIA-SCID) is a very rare disease caused by deleterious mutations in the tetratricopeptide repeat domain-containing protein 7A gene TTC7A. It is characterized by intestinal obstruction, sepsis, and a poor prognosis. Insights into phenotype–genotype correlations could help to guide genetic counseling and increase our knowledge of the natural history of this disease.