{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,29]],"date-time":"2025-08-29T00:03:45Z","timestamp":1756425825127,"version":"3.44.0"},"reference-count":10,"publisher":"BMJ","issue":"5","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2024,11,6]]},"published-print":{"date-parts":[[2025,5]]},"abstract":"<jats:p>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.<\/jats:p>","DOI":"10.1136\/bcr-2024-262190","type":"journal-article","created":{"date-parts":[[2025,5,5]],"date-time":"2025-05-05T23:50:15Z","timestamp":1746489015000},"page":"e262190","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Hereditary multiple intestinal atresia associated with protein-losing enteropathy and immunoglobulins loss"],"prefix":"10.1136","volume":"18","author":[{"given":"Yusriya","family":"Al Rawahi","sequence":"first","affiliation":[{"name":"Child Health Deaprtment, Sultan Qaboos University Hospital, University Medical City, Muscat, Oman"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anood","family":"Al Rawahi","sequence":"additional","affiliation":[{"name":"Pediatrics, Oman Medical Speciality Board, Al-Athaiba, Muscat, Oman"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hilal","family":"Al Mandhari","sequence":"additional","affiliation":[{"name":"Child Health Deaprtment, Sultan Qaboos University Hospital, University Medical City, Muscat, Oman"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4275-4524","authenticated-orcid":false,"given":"Yasser","family":"Wali","sequence":"additional","affiliation":[{"name":"Department of Child Health, Sultan Qaboos University College of Medicine and Health Sciences, Seeb, Oman"},{"name":"Alexandria University Faculty of Medicine, Alexandria, Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2025,5,5]]},"reference":[{"key":"2025082803194628000_18.5.e262190.1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02762182"},{"key":"2025082803194628000_18.5.e262190.2","article-title":"Hereditary Multiple Intestinal Atresia: A Case Report and Review 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over the last 50 years","volume":"2011","author":"Ali","year":"2011","journal-title":"BMJ Case Rep"},{"key":"2025082803194628000_18.5.e262190.7","doi-asserted-by":"crossref","first-page":"1461","DOI":"10.1007\/s10875-022-01299-1","article-title":"Protein-losing Enteropathy as a Complication and\/or Differential Diagnosis of Common Variable Immunodeficiency","volume":"42","author":"Sanges","year":"2022","journal-title":"J Clin Immunol"},{"key":"2025082803194628000_18.5.e262190.8","doi-asserted-by":"crossref","DOI":"10.3389\/fimmu.2020.623199","article-title":"A Decade Experience on Severe Combined Immunodeficiency Phenotype in Oman, Bridging to Newborn Screening","volume":"11","author":"Al Sukaiti","year":"2020","journal-title":"Front Immunol"},{"key":"2025082803194628000_18.5.e262190.9","doi-asserted-by":"crossref","DOI":"10.1097\/MD.0000000000000327","article-title":"Multiple intestinal atresia with combined immune deficiency related to TTC7A defect is a multiorgan pathology: study of a French-Canadian-based cohort","volume":"93","author":"Fernandez","year":"2014","journal-title":"Medicine (Baltimore)"},{"key":"2025082803194628000_18.5.e262190.10","first-page":"131","article-title":"In utero sonographic findings in a fetus with a hereditary multiple intestinal atresia","volume":"65","author":"Chou","year":"2002","journal-title":"Zhonghua Yi Xue Za Zhi (Taipei)"}],"container-title":["BMJ Case 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